Syed Fateh Shah Abbasi
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PROVIDER: S-EPMC261780 | biostudies-literature | 2003 Nov
REPOSITORIES: biostudies-literature
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| S-EPMC1557961 | biostudies-literature
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| S-EPMC6857498 | biostudies-literature
Project description:Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern.
| S-EPMC6291636 | biostudies-literature
Project description:A diverse body of research has demonstrated that people update their beliefs to a greater extent when receiving good news compared to bad news. Recently, a paper by Shah et al. claimed that this asymmetry does not exist. Here we carefully examine the experiments and simulations described in Shah et al. and follow their analytic approach on our data sets. After correcting for confounds we identify in the experiments of Shah et al., an optimistic update bias for positive life events is revealed. Contrary to claims made by Shah et al., we observe that participants update their beliefs in a more Bayesian manner after receiving good news than bad. Finally, we show that the parameters Shah et al. pre-selected for simulations are at odds with participants' data, making these simulations irrelevant to the question asked. Together this report makes a strong case for a true optimistic asymmetry in belief updating.
| S-EPMC5380127 | biostudies-literature
Project description:Mutations in the human genes encoding the endothelin ligand-receptor pair EDN3 and EDNRB cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration of neural crest-derived melanocytes to the inner ear. We explored the role of endothelin signaling in auditory development in mice using neural crest-specific and placode-specific Ednrb mutation plus related genetic resources. On an outbred strain background, we find a normal representation of melanocytes in hearing-impaired mutant mice. Instead, our results in neural crest-specific Ednrb mutants implicate a previously unrecognized role for glial support of synapse assembly between auditory neurons and cochlear hair cells. Placode-specific Ednrb mutation also caused impaired hearing, resulting from deficient synaptic transmission. Our observations demonstrate the significant influence of genetic modifiers in auditory development, and invoke independent and separable roles for endothelin signaling in the neural crest and placode lineages to create a functional auditory circuitry.
| S-EPMC11762213 | biostudies-literature
Project description:BackgroundPatients with chronic conditions, such as heart failure, swim regularly and most rehabilitation exercises are conducted in warm hydrotherapy pools. However, little is known about the acute effects of warm water immersion (WWI) on cardiac haemodynamics in patients with chronic heart failure (CHF).MethodsSeventeen patients with CHF (NYHA I and II; mean age 67 years, 88% male, mean left ventricular ejection fraction 33%) and 10 age-matched normal subjects were immersed up to the neck in a hydrotherapy pool (33-35 °C). Cardiac haemodynamics were measured non-invasively, and echocardiography was performed at baseline, during WWI, 3 min after kicking in the supine position and after emerging.ResultsIn patients with CHF, compared to baseline, WWI immediately increased stroke volume (SV, mean ± standard deviation; from 65 ± 21 to 82 ± 22 mL, p < 0.001), cardiac output (CO, from 4.4 ± 1.4 to 5.7 ± 1.6 L/min, p < 0.001) and cardiac index (CI, from 2.3 ± 0.6 to 2.9 ± 0.70 L/min/m², p < 0.001) with decreased systemic vascular resistance (from 1881 ± 582 to 1258 ± 332 dynes/s/cm5, p < 0.001) and systolic blood pressure (132 ± 21 to 115 ± 23 mmHg, p < 0.001). The haemodynamic changes persisted for 15 min of WWI. In normal subjects, compared to baseline, WWI increased SV (from 68 ± 11 to 80 ± 18 mL, p < 0.001), CO (from 5.1 ± 1.9 to 5.7 ± 1.8 L/min, p < 0.001) and CI (from 2.7 ± 0.9 to 2.9 ± 1.0 L/min/m², p < 0.001).In patients with CHF, compared to baseline, WWI caused an increase in left atrial volume (from 57 ± 44 to 72 ± 46 mL, p = 0.04), without any changes in left ventricular size or function or amino terminal pro B-type natriuretic peptide.ConclusionsIn patients with CHF, WWI causes an acute increase in cardiac output and a fall in systemic vascular resistance.Clinical trial registrationClinicalTrials.gov (Identifier: NCT02949544) https://clinicaltrials.gov/ct2/show/NCT02949544?cond=NCT02949544&rank=1 .
| S-EPMC6484774 | biostudies-literature
Project description:Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, whereas SOX10 mutations are inherited in an autosomal dominant manner. We report here the case of a 3-month-old Morrocan girl with WS type IV, born to consanguineous parents. The patient had 3 cousins who died in infancy with the same symptoms. Molecular analysis by Sanger sequencing revealed the presence of a novel homozygous missense mutation c.1133A>G (p.Asn378Ser) in the EDNRB gene. The proband's parents as well as the parents of the deceased cousins are heterozygous carriers of this likely pathogenic mutation. This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies.
| S-EPMC4369116 | biostudies-literature
Project description:IntroductionIn developing countries most patients with refractory erectile dysfunction cannot afford a penile prosthesis (PP) due to its cost and non-coverage by insurance companies.AimTo assess the patient satisfaction outcomes with a novel, low-cost, semi-rigid PP.Methods52 patients who had received the Shah semi-rigid PP between January 2013 and December 2018 were included in this bidirectional study. Patient demographics including age, etiology, body mass index, length of PP received and post-operative complications were recorded. Patient satisfaction with the PP was evaluated using the modified Erectile Dysfunction Inventory of Treatment Satisfaction (EDITS) Questionnaire.Main outcome measuresThe primary outcome measures were overall satisfaction, total EDITS and mean EDITS score. The secondary outcome measures were residual penile tumescence, ease of concealment and post-operative complications.ResultsThe mean age of the patients was 38.79 years (25-68). Overall satisfaction (EDITS Q-1) of 4 (0-4) was reported by 84.62% (44/52) of patients. There was no significant difference (P > .7) in the total EDITS and overall satisfaction based on various etiological factors. The mean EDITS scores (0-100) were 95.67 ± 10.76, 95.53 ± 8.46 and 91.72 ± 22.42 in 52 patients with BMI <25, 25-29.9 and >30 kg/m2 respectively. During sexual arousal after PP implantation, 26 (50%), 17 (32.7%) and 9 (17.3%) patients noted "good", "some" or "no" residual penile tumescence respectively. 47 (90.4%), 4 (7.7%) and 1 (1.9%) patients reported "good", "fair" and "poor" concealment respectively. In the prospective group, major and minor post-operative complications were seen in 10.7% (3/28) and 21.4% (6/28) of patients respectively.ConclusionThe semi-rigid Shah PP is a safe, effective and affordable option to treat patients with refractory ED. The ability to remove 1 or both sleeves in the Shah PP helps achieve a good fit with a small inventory. Krishnappa P, Tripathi A, Shah R. Surgical Outcomes and Patient Satisfaction With the Low-Cost, Semi-Rigid Shah Penile Prosthesis: A boon to the Developing Countries. Sex Med 2021;9:100399.
| S-EPMC8360909 | biostudies-literature
Project description:Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. This is the first case of WS with homochromatic irises and the fourth case to be reported from Pakistan.
| S-EPMC6188159 | biostudies-other