To evaluate the types and severity of subcortical aphasia after stroke and to determine the predictors of the degree of aphasic impairment.
Medical records of 38 patients with post-stroke subcortical aphasia (19 males; mean age, 61.7±13.8 years) were reviewed retrospectively with respect to the following tests: the Korean version of the Western Aphasia Battery (K-WAB), the Korean version of the Modified Barthel Index (K-MBI), and the Fugl-Meyer Index (FMI). The severity of aphasia was evaluated by the aphasia quotient (AQ) and the language quotient (LQ).
Anomic aphasia was the most frequent type of aphasia (n=15, 39.5%), and the lesion most frequently observed in subcortical aphasia was located in the basal ganglia (n=19, 50.0%). Patients with lesions in the basal ganglia exhibited the lowest scores on the FMI for the upper extremities (p=0.04). Severity of aphasia was significantly correlated with the K-MBI (Pearson correlation coefficient: γ=0.45, p=0.01 for AQ and γ=0.53, p=0.01 for LQ) and FMI scores for the lower extremities (γ=0.43, p=0.03 for AQ and γ=0.49, p=0.05 for LQ). In a multivariate logistic regression analysis, K-MBI remained the only explanatory variable closely associated with aphasia severity.
This study showed the general characteristics of post-stroke subcortical aphasia, and it revealed that K-MBI was an associated and explanatory factor for aphasia severity.
Citations
To determine the frequency and characteristics of vascular cognitive impairment (VCI) in patients with subacute stroke who underwent inpatient rehabilitation and to analyze whether cognitive function can predict functional assessments after rehabilitation.
We retrospectively reviewed the medical records of patients who were admitted to our rehabilitation center after experiencing a stroke between October 2014 and September 2015. We analyzed the data from 104 patients who completed neuropsychological assessments within 3 months after onset of a stroke.
Cognitive impairment was present in 86 out of 104 patients (82.6%). The most common impairment was in visuospatial function (65, 62.5%) followed by executive function (63, 60.5%), memory (62, 59.6%), and language function (34, 32.6%). Patients with impairment in the visuospatial and executive domains had poor scores of functional assessments at both admission and discharge (p<0.05). A multivariate analysis revealed that age (β=−0.173) and the scores on the modified Rankin Scale (β=−0.178), Korean version of the Modified Barthel Index (K-MBI) (β=0.489) at admission, and Trail-Making Test A (TMT-A) (β=0.228) were related to the final K-MBI score at discharge (adjusted R2=0.646).
In our study, VCI was highly prevalent in patients with stroke. TMT-A scores were highly predictive of their final K-MBI score. Collectively, our results suggest that post-stroke executive dysfunction is a significant and independent predictor of functional outcome.
Citations
The Applicability of the Patient-Specific Functional Scale (PSFS) in Rehabilitation for Patients with Acquired Brain Injury (ABI) – A Cohort Study
To evaluate the association between clinical and socio-demographic status and health-related quality of life (HR-QoL) in stroke survivors age 40 and older in the Korean population.
The relationship between stroke and HR-QoL was investigated using data from the Korea National Health and Nutrition Examination Survey (KNHANES), conducted from 2007–2012. The total number of respondents was 24,050 and 757 stroke survivors were included. Specifically, we investigated factors associated with the lowering of HR-QoL in a group of Korean adult stroke patients age 40 and older after adjusting for socio-demographic factors, anthropometric measurements, and clinical comorbidities. Adjusted effects of covariates on EuroQol-visual analog scales (EQ-VAS) scores were estimated with a complex-samples general linear model and multivariate-adjusted odds ratios of the lowest quintile versus highest quintile of the EQ-VAS scores in the stroke group were estimated with a complex-samples logistic regression model.
Socio-demographic, anthropometric factors, and clinical comorbidities significantly differed between the stroke and non-stroke groups, except regarding gender and residential area. The EQ-VAS was significantly lower in the stroke than non-stroke group. Anxiety/depression problems significantly lowered EQ-VAS, as did low education level, smoking, mobility and usual activities problems. Also, aging in 1-year increments and cardiovascular disease had a significant effect on lower EQ-VAS in stroke survivors.
People with a stroke have significantly lower HR-QoL than healthy subjects. Therefore, managing depression, smoking, or cardiovascular disease and maintenance of physical function may be priority goals in improving HR-QoL after a stroke.
Citations
To determine the incidence and risk factors for medical complications in Korean patients suffering from stroke and the impact of such complications on post-stroke functional outcomes.
We assessed patients enrolled in a prospective cohort study. All recruited patients had suffered a first acute stroke episode and been admitted to nine university hospitals in Korea between August 2012 and June 2015. We analyzed patient and stroke characteristics, comorbidities, prevalence of post-stroke medical complications, and functional outcomes at time of discharge and 3, 6, and 12 months after stroke onset.
Of 10,625 patients with acute stroke, 2,210 (20.8%) presented with medical complications including bladder dysfunction, bowel dysfunction, sleep disturbance, pneumonia, and urinary tract infection. In particular, complications occurred more frequently in older patients and in patients with hemorrhagic strokes, more co-morbidities, severe initial motor impairment, or poor swallowing function. In-hospital medical complications were significantly correlated with poor functional outcomes at all time points.
Post-stroke medical complications affect functional recovery. The majority of complications are preventable and treatable; therefore, the functional outcomes of patients with stroke can be improved by providing timely, appropriate care. Special care should be provided to elderly patients with comorbid risk factors.
Citations
To evaluate the reliability of the practical life space in post-stroke patients using the Korean version of the Life-Space Assessment (K-LSA) questionnaire and to assess the relationships between the K-LSA and physical function, daily activity, quality of life, and post-stroke depression.
The LSA questionnaire was translated into Korean, and the translated version was authorized by the author of the LSA questionnaire. In a cross-sectional study, the performance of the K-LSA was evaluated in 34 stroke patients (20 males and 14 females; mean age 65.11±2.39 years) who were receiving physical and occupational therapy at the outpatient clinic in the rehabilitation medicine department of a university medical center at the time of evaluation. Performances were assessed twice by one examiner at a 2-week interval to test the reliability. The patients were evaluated using the Functional Ambulation Category (FAC) scale, Functional Independence Measure (FIM) scale, and mobility subscale of the FIM to assess their relationships with the K-LSA. They were also evaluated using the EuroQol 5 Dimensions questionnaire (EQ-5D) and Geriatric Depression Scale (GDS) to determine the relationship with quality of life and post-stroke depression.
Test-retest reliability at the first (62.20±32.14) and second (63.15±32.22) assessment was 0.993 (p<0.01). The K-LSA showed significant correlations with the FAC (r=0.848, p<0.01), FIM (r=0.765, p<0.01), mobility category of the FIM (r=0.764, p<0.01), GDS (r=-0.657, p<0.01), and EQ-5D (r=0.506, p<0.01).
This study suggests that the practical life space of post-stroke patients, assessed by the K-LSA, has a significant correlation with patients' functional mobility, independence in daily activity, quality of life, and depression.
Citations
To identify possible clinical predictors of intermittent oro-esophageal (OE) tube feeding success, and evaluate the clinical factors associated with OE tube treatment.
A total of 135 dysphagic patients were reviewed, who received OE tube treatment and were hospitalized in the department of rehabilitation medicine between January 2005 and December 2014. The 76 eligible cases enrolled were divided into two groups, based on the OE tube training success. Clinical factors assessed included age, cause of brain lesion, gag reflex, cognitive function and reasons for OE tube training failure.
Of the 76 cases enrolled, 56 study patients were assigned to the success group, with the remaining 20 in the failure group. There were significant differences between these two groups in terms of age, gag reflex, ability to follow commands, and the score of Korean version of Mini-Mental Status Examination (K-MMSE). Location of the brain lesion showed a borderline significance. Multivariable analysis using logistic regression revealed that age, cause of brain lesion, gag reflex, and K-MMSE were the main predictors of OE tube training success.
A younger age, impaired gag reflex and higher cognitive function (specifically a K-MMSE score ≥19.5) are associated with an increased probability of OE tube training success in dysphagic patients.
Citations
To compare swallowing function between healthy subjects and patients with pharyngeal dysphagia using high resolution manometry (HRM) and to evaluate the usefulness of HRM for detecting pharyngeal dysphagia.
Seventy-five patients with dysphagia and 28 healthy subjects were included in this study. Diagnosis of dysphagia was confirmed by a videofluoroscopy. HRM was performed to measure pressure and timing information at the velopharynx (VP), tongue base (TB), and upper esophageal sphincter (UES). HRM parameters were compared between dysphagia and healthy groups. Optimal threshold values of significant HRM parameters for dysphagia were determined.
VP maximal pressure, TB maximal pressure, UES relaxation duration, and UES resting pressure were lower in the dysphagia group than those in healthy group. UES minimal pressure was higher in dysphagia group than in the healthy group. Receiver operating characteristic (ROC) analyses were conducted to validate optimal threshold values for significant HRM parameters to identify patients with pharyngeal dysphagia. With maximal VP pressure at a threshold value of 144.0 mmHg, dysphagia was identified with 96.4% sensitivity and 74.7% specificity. With maximal TB pressure at a threshold value of 158.0 mmHg, dysphagia was identified with 96.4% sensitivity and 77.3% specificity. At a threshold value of 2.0 mmHg for UES minimal pressure, dysphagia was diagnosed at 74.7% sensitivity and 60.7% specificity. Lastly, UES relaxation duration of <0.58 seconds had 85.7% sensitivity and 65.3% specificity, and UES resting pressure of <75.0 mmHg had 89.3% sensitivity and 90.7% specificity for identifying dysphagia.
We present evidence that HRM could be a useful evaluation tool for detecting pharyngeal dysphagia.
Citations
To investigate if walking is independently associated with low back pain (LBP) in the general population.
This cross-sectional study used public data from the Fourth and Fifth Korean National Health and Nutrition Examination Survey. Subjects included 5,982 community-dwelling adults aged ≥50 years. Presence of current LBP was defined as LBP for 1 month or more in the past 3 months. Walking was measured as total walking duration for the past week and subjects were divided into four quartiles. Independent effect of walking on LBP was determined using odds ratios (OR) adjusted for age, sex, osteoporosis, depression or anxiety, and radiographic lumbar spondylosis.
Prevalence of LBP was 26.4% in this population. Older people and women had higher prevalence of current LBP. Prevalence of obesity and osteoporosis was higher in subjects with current LBP and quality of life was poorer in subjects with current LBP. Adjusted logistic regression model revealed that older age (OR, 1.655; p=0.018), female sex (OR, 2.578; p<0.001), radiographic lumbar spondylosis (OR, 2.728; p<0.001), depression or anxiety (OR, 5.409; p<0.001), and presence of osteoporosis (OR, 1.467; p=0.002) were positively associated with current LBP. Walking decreased prevalence of current LBP proportionally (2nd quartile OR, 0.795; 3rd quartile OR, 0.770; and 4th quartile OR, 0.686 compared with the 1st quartile of walking).
Walking was negatively associated with LBP. Further studies are needed to reveal causal relationship of this phenomenon.
Citations
To investigate the reliability and validity of a new method for isometric back extensor strength measurement using a portable dynamometer.
A chair equipped with a small portable dynamometer was designed (Power Track II Commander Muscle Tester). A total of 15 men (mean age, 34.8±7.5 years) and 15 women (mean age, 33.1±5.5 years) with no current back problems or previous history of back surgery were recruited. Subjects were asked to push the back of the chair while seated, and their isometric back extensor strength was measured by the portable dynamometer. Test-retest reliability was assessed with intraclass correlation coefficient (ICC). For the validity assessment, isometric back extensor strength of all subjects was measured by a widely used physical performance evaluation instrument, BTE PrimusRS system. The limit of agreement (LoA) from the Bland-Altman plot was evaluated between two methods.
The test-retest reliability was excellent (ICC=0.82; 95% confidence interval, 0.65–0.91). The Bland-Altman plots demonstrated acceptable agreement between the two methods: the lower 95% LoA was −63.1 N and the upper 95% LoA was 61.1 N.
This study shows that isometric back extensor strength measurement using a portable dynamometer has good reliability and validity.
Citations
To assess the cross-sectional area (CSA) of the muscles for investigating the occurrence of asymmetry of the paraspinal (multifidus and erector spinae) and psoas muscles and its relation to the chronicity of unilateral lumbar radiculopathy using magnetic resonance imaging (MRI).
This retrospective study was conducted between January 2012 to December 2014. Sixty one patients with unilateral L5 radiculopathy were enrolled: 30 patients had a symptom duration less than 3 months (group A) and 31 patients had a symptom duration of 3 months or more (group B). Axial MRI measured the CSA of the paraspinal and psoas muscles at the middle between the lower margin of the upper vertebra and upper margin of the lower vertebra, and obtained the relative CSA (rCSA) which is the ratio of the CSA of muscles to that of the lower margin of L4 vertebra.
There were no differences in the demographics between the two groups. In group B, rCSA of the erector spinae at the L4–5 level, and that of multifidus at the L4–5 and L5–S1 levels, were significantly smaller on the involved side as compared with the uninvolved side. In contrast, no significant muscle asymmetry was observed in group A. The rCSA of the psoas was not affected in either group.
The atrophy of the multifidus and erector spinae ipsilateral to the lumbar radiculopathy was observed only in patients suffering from unilateral radiculopathy for 3 months or more.
Citations
To elucidate the association between non-specific low back pain (NSLBP) and spinal X-ray findings in Korean farmers: Farmers' Cohort for Agricultural Work-Related Musculoskeletal disorders (FARM) study.
A total of 835 farmers (391 males, 444 females; mean age, 56.6±7.4 years) without red-flag signs of specific LBP were recruited. Presence of LBP more than one week or once a month with more than moderate degree of pain severity during the last year was assessed with a binary questionnaire (yes or no). Spinal degenerative changes were classified into disc height change (DHC) of L4-5 and L5-S1 (grade 0–5) and osteophyte formation of L5 (grade 0–5) by a radiologist based on X-ray findings. Additionally, spondylolisthesis, scoliosis and spondylolysis were assessed.
General prevalence of NSLBP was 40.7%, revealing a higher incidence of NSLBP in female and younger farmers compared to male and older farmers (χ2=23.3, p<0.001; χ2=4.54, p<05, respectively). Among X-ray findings, DHC (L5–S1) grade 4 revealed significantly higher relative risk of NSLBP compared to grade 0 (odds ratio, 5.00; 95% confidence interval, 2.05–12.20) after adjusting age and sex, while other X-ray findings were not associated with NSLBP.
The NSLBP of Korean farmers was significantly related to lumbar disc degenerative changes, suggesting clinical usefulness of X-ray findings in assessing LBP in farmers.
Citations
To investigate the effects of early combined eccentric-concentric (ECC-CON) or concentric (CON) resistance training following total knee arthroplasty (TKA).
Patients who underwent a primary TKA were randomly assigned to an ECC-CON group (n=16) or a CON group (n=18). All patients received early, progressive resistance training with five sessions per week for 2 weeks starting 2 weeks after TKA. Isometric knee flexor and extensor strength of the surgical and non-surgical knees, instrumental gait analysis for spatiotemporal parameters, 6-Minute Walk Test (6MWT), Timed Up and Go Test (TUG), Timed Stair Climbing Test (SCT) were used to evaluate performance-based physical function. The Western Ontario McMaster Universities Osteoarthritis Index (WOMAC) and EuroQOL five dimensions (EQ-5D) questionnaire were used to evaluate self-reported physical function and self-reported quality of life. All patients underwent these evaluations before and 1 month after TKA.
The ECC-CON group showed clinically meaningful improvements in extensor peak torque (PT) of the non-surgical knee, gait speed, and 6MWT from preoperative values. The CON group had an increase in H/Q ratio of the surgical knee and improvement in SCT-ascent postoperatively. Both groups showed significant improvements in WOMAC-Pain, function, and EQ-5D scores. Although extensor PT of the surgical knee did not reach the preoperative level in either group, the postoperative change was significantly less in the ECC-CON group than the CON group.
Early combined ECC-CON resistance training minimizes the loss in quadriceps strength of the surgical knee and improves endurance and gait speed after TKA.
Citations
To evaluate and compare the effects and outcomes of extracorporeal shock wave therapy (ESWT) and intra-articular injections of hyaluronic acid (HA) in patients with knee osteoarthritis (OA).
Of the 78 patients recruited for the study, 61 patients met the inclusion criteria. The enrolled patients were randomly divided into two groups: the ESWT group and the HA group. The ESWT group underwent 3 sessions of 1,000 shockwave pulses performed on the affected knee with the dosage adjusted to 0.05 mJ/mm2 energy. The HA group was administered intra-articular HA once a week for 3 weeks with a 1-week interval between each treatment. The results were measured with the visual analogue scale (VAS), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), Lequesne index, 40-m fast-paced walk test, and stair-climb test (SCT). A baseline for each test was measured before treatment and then the effects of the treatments were measured by each test at 1 and 3 months after treatment.
In both groups, the scores of the VAS, WOMAC, Lequesne index, 40-m fast-paced walk test, and SCT were significantly improved in a time-dependent manner (p<0.01). There were no statistically significant differences measured at 1 and 3 months after treatment between the two groups (p>0.05).
The ESWT can be an alternative treatment to reduce pain and improve physical functions in patients with knee OA.
Citations
To analyze speech and linguistic features in children with articulation disorder characterized by consonant and vowel phonological errors.
Between February 2007 and June 2015, 117 children who showed articulation disorder were selected for the study. Based on comprehensive speech and language assessments, the subjects were classified into articulation dysfunction (AD), or AD overlapping with language delay. Detailed information of articulation, including percentage of consonants correct (PCC) and normal percentage of variable consonants derived from the Assessment of Phonology and Articulation for Children test, were compared between the two groups.
Totally, 55 children were diagnosed as AD and 62 as AD with language delay. Mean PCC was not significantly different between the two groups. In both groups, the acquisition order of consonants followed the universal developmental sequence. However, differences were observed in the nasal & plosive consonants abnormality between the two groups. When adjusted to their delayed language level in AD with language delay group, 53% of children had appropriate articulation function for their expressive language level.
Speech and linguistic characteristics in children with articulation disorder were variable. Therefore, comprehensive assessment is required in children with inaccurate pronunciation, and a proper treatment plan based on the results of assessment should be followed.
To assess the well-being of preterm newborns using the Bayley-III scales in a Korean-based population, and to evaluate the perinatal risk factors influencing developmental outcome.
Using the Bayley-III scales, we assessed 120 preterm infants who were referred for evaluation of neurodevelopmental performance. We subdivided them into an extremely preterm group (n=18) and a very/moderate to late preterm group (n=102). Bayley-III mean scores and the rate of infants showing a delay were compared for both groups. The relationship between perinatal risk factors and Bayley-III scores was analyzed. The risk factors were considered as very low birth weight, history of neonatal medical problems, and abnormal radiologic findings in brain magnetic resonance images (MRIs).
Although no significant differences in mean scores were observed between the extremely preterm group and the very/moderate to late preterm group, the rate of babies showing developmental delay in motor composite scores was significantly higher in the extremely preterm group. The proportions of preterm infants with cognitive, language, and motor delays were 38.3%, 26.7%, and 35.0%, respectively. Very low birth weight was a significant risk factor for low cognitive, language, and motor composite scores. Also, abnormal radiologic findings on brain MRI were significant indicators of lower motor composite scores.
Cognitive development was the most frequently delayed domain in preterm infants and motor development was more frequently delayed in the extremely preterm group. The very low birth weight and abnormal radiologic findings in brain MRI were predictive factors for neurodevelopmental outcome.
Citations
To identify the usefulness of both the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III) and Denver Developmental Screening Test II (DDST-II) in preterm babies with neurodevelopmental impairment, considering the detection rate as regulation of criteria.
Retrospective medical chart reviews which included the Bayley-III and DDST-II, were conducted for 69 preterm babies. Detection rate of neurodevelopmental impairment in preterm babies were investigated by modulating scaled score of the Bayley-III. The detection rate of DDST-II was identified by regarding more than 1 caution as an abnormality. Then detection rates of each corrected age group were verified using conventional criteria.
When applying conventional criteria, 22 infants and 35 infants were detected as preterm babies with neurodevelopmental impairment, as per the Bayley-III and DDST-II evaluation, respectively. Detection rates increased by applying abnormal criteria that specified as less than 11 points in the Bayley-III scaled score. In DDST-II, detection rates rose from 50% to 68.6% using modified criteria. The detection rates were highest when performed after 12 months corrected age, being 100% in DDST II. The detection rate also increased when applying the modified criteria in both the Bayley-III and DDST-II.
Accurate neurologic examination is more important for detection of preterm babies with neurodevelopmental impairment. We suggest further studies for the accurate modification of the detection criteria in DDST-II and the Bayley-III for preterm babies.
Citations
To perform a translation and cross-cultural adaptation of the Cardiac Rehabilitation Barriers Scale (CRBS) for use in Korea, followed by psychometric validation. The CRBS was developed to assess patients' perception of the degree to which patient, provider and health system-level barriers affect their cardiac rehabilitation (CR) participation.
The CRBS consists of 21 items (barriers to adherence) rated on a 5-point Likert scale. The first phase was to translate and cross-culturally adapt the CRBS to the Korean language. After back-translation, both versions were reviewed by a committee. The face validity was assessed in a sample of Korean patients (n=53) with history of acute myocardial infarction that did not participate in CR through semi-structured interviews. The second phase was to assess the construct and criterion validity of the Korean translation as well as internal reliability, through administration of the translated version in 104 patients, principle component analysis with varimax rotation and cross-referencing against CR use, respectively.
The length, readability, and clarity of the questionnaire were rated well, demonstrating face validity. Analysis revealed a six-factor solution, demonstrating construct validity. Cronbach's alpha was greater than 0.65. Barriers rated highest included not knowing about CR and not being contacted by a program. The mean CRBS score was significantly higher among non-attendees (2.71±0.26) than CR attendees (2.51±0.18) (p<0.01).
The Korean version of CRBS has demonstrated face, content and criterion validity, suggesting it may be useful for assessing barriers to CR utilization in Korea.
Citations
To identify the prevalence of lumbar scoliosis in breast cancer patients and to investigate the potential risk factors of lumbar scoliosis.
A retrospective chart review was performed in breast cancer patients aged more than 40 years who underwent dual energy X-ray absorptiometry (DEXA) scanning between January 2014 and December 2014. We divided the patients into control and experimental groups in order to investigate the influence of breast cancer treatment. The curvature of the lumbar spine was measured by using the Cobb method on a DEXA scan. Scoliosis was defined by the presence of a curvature 10° or larger. The variables, including age, bone mineral density (BMD), body mass index (BMI), and breast cancer treatments, were also obtained from the medical chart. Prevalence of lumbar scoliosis was evaluated, and it was compared between the two groups. The relationships between lumbar scoliosis and these variables were also investigated.
Lumbar scoliosis was present in 16 out of our 652 breast cancer patients. There was no difference in the prevalence of lumbar scoliosis between the control group (7/316) and the experimental group (9/336) (p=0.70). According to the logistic regression analysis, lumbar scoliosis had no significant association with operation, chemotherapy, hormone therapy, BMI, and BMD (p>0.05). However, age showed a significant relationship with prevalence of lumbar scoliosis (p<0.001; odds ratio, 1.11; 95% confidence interval, 1.054–1.170).
Prevalence of lumbar scoliosis in patients with breast cancer was 2.45%. Lumbar scoliosis had no association with breast cancer treatments, BMD, and BMI. Age was the only factor related to the prevalence of lumbar scoliosis.
Citations
The loss of an upper limb significantly limits the functional activities of daily living. A huge emphasis is placed on the manipulation, shape, weight, and comfort of a prosthesis, to enable its use as an inherent body part. Even with technological advances, customized upper-extremity myoelectric prosthesis remain heavy and expensive. The high cost of upper-extremity prosthesis is an especially steep economic barrier for patients. Three-dimensional (3D) printing is a promising avenue for reducing the cost of prosthesis. We applied 3D-printed pressure-sensored prosthetics to a traumatic transradial amputee, and compared the hand functions with a customized myoelectric prosthesis. The 3D-printed pressure-sensored prosthetics showed low grip strength and decreased dexterity compared to the conventional myoelectric prosthesis. Although there were a few limitations, the fabrication of prosthesis with 3D printing technology can overcome previous problems such as high production cost, long fabrication period and heavy weight.
Citations
Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.
Citations
We reported on a 60-year-old man presenting lymphedema of both lower extremities and scrotum for 3 years with unknown cause. We took a computed tomography scan of the lower extremities as a follow-up. There were diffuse subcutaneous edema in both lower extremities and multiple enlarged lymph nodes along the para-aortic and bilateral inguinal areas. For further evaluation, biopsy of an enlarged inguinal lymph node was taken, yielding a diagnosis of primary amyloidosis. A treatment of chemotherapy for amyloidosis was recommended for him. To our knowledge, this is the first report of lymphedema presenting with primary amyloidosis in Asia. This case suggests that primary amyloidosis could be one of the differential diagnoses in patients with lymphedema in the lower extremities.
Infants with Sandhoff disease typically appear normal until 3–6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed signs of aspiration at 20 months of age. The major problems related to dysphagia were oromotor dysfunction and abnormal feeding posture. Within 3 months of identification of difficulty in swallowing, the patient showed a significant decrease in food intake, with rapid deterioration of nutritional status. We report our case with a review of the literature.
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