scholarly journals Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

2021 ◽  
Vol 9 ◽  
Author(s):  
Yajie Su ◽  
Hui Zhang ◽  
Huijun Wang ◽  
Bingbing Wu ◽  
Jiao Yang ◽  
...  
Keyword(s):  
Liver Function ◽  
Gene Mutations ◽  
Failure To Thrive ◽  
Serum Lactate ◽  
High Serum ◽  
Abnormal Liver Function ◽  
Severe Phenotype ◽  
Novel Mutations ◽  
Feeding Problem ◽  
Generation Sequencing

MEGDEL syndrome and SATB2-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in SERAC1 and a mutation in SATB2. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.

scholarly journals Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients

2014 ◽  
Vol 2014 ◽  
pp. 1-12 ◽  
Author(s):  
Mohammed Alanazi ◽  
Abdulrahman Saud Al-Arfaj ◽  
Zainularifeen Abduljaleel ◽  
Hussein Fahad Al-Arfaj ◽  
Narasimha Reddy Parine ◽  
...  
Keyword(s):  
Uric Acid ◽  
Serum Uric Acid Level ◽  
Point Mutations ◽  
Gene Mutations ◽  
Saudi Arabian ◽  
High Serum ◽  
Dynamics Simulation ◽  
Steady Increase ◽  
Hprt Gene ◽  
Novel Mutations

Over the past decade, a steady increase in the incidence of HPRT-related hyperuricemia (HRH) has been observed in Saudi Arabia. We examined all the nine exons of HPRT gene for mutations in ten biochemically confirmed hyperuricemia patients, including one female and three normal controls. In all, we identified 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid. The Lys103Met alteration was highly recurrent and was observed in 50% of the cases, while Ala160Thr and Lys158Asn substitutions were found in two patients. Moreover, in 70% of the patients ≥2 mutations were detected concurrently in the HPRT gene. Interestingly, one of the patients that harbored Lys103Met substitution along with two frameshift mutations at codons 85 and 160 resulting in shortened protein demonstrated unusually high serum uric acid level of 738 μmol/L. Two of the seven point mutations that resulted in amino acid change (Lys103Met and Val160Gly) were predicted to be damaging by SIFT and Polyphen and were further analyzed for their protein stability and function by molecular dynamics simulation. The identified novel mutations in the HPRT gene may prove useful in the prenatal diagnosis and genetic counseling.

Abnormal liver function and synthetic estrogens

JAMA ◽  
1965 ◽  
Vol 194 (8) ◽  
pp. 933-933
Author(s):  
H. B. Eisenstadt
Keyword(s):  
Liver Function ◽  
Abnormal Liver Function ◽  
Synthetic Estrogens

Alpha 1 Anti Trypsin Levels in Asymptomatic Patients with Abnormal Liver Function Tests

Endoscopy ◽  
2006 ◽  
Vol 38 (11) ◽  
Author(s):  
BJ Egan ◽  
S Sarwar ◽  
M Anwar ◽  
C O'Morain ◽  
B Ryan
Keyword(s):  
Liver Function ◽  
Liver Function Tests ◽  
Abnormal Liver Function ◽  
Function Tests ◽  
Asymptomatic Patients

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

2019 ◽  
Vol 50 (05) ◽  
pp. 313-317 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Kapil Jehta ◽  
Maya D. Bhat
Keyword(s):  
Gene Mutations ◽  
Febrile Illness ◽  
Flaccid Paralysis ◽  
Thiamine Pyrophosphate ◽  
Homozygous Mutation ◽  
Missense Variation ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain ◽  
Generation Sequencing ◽  
Striatal Necrosis

Abstract Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

scholarly journals Abnormal Liver Function Tests and Long-Term Outcomes in Patients Discharged after Acute Heart Failure

2021 ◽  
Vol 10 (8) ◽  
pp. 1730
Author(s):  
Hiroshi Miyama ◽  
Yasuyuki Shiraishi ◽  
Shun Kohsaka ◽  
Ayumi Goda ◽  
Yosuke Nishihata ◽  
...  
Keyword(s):  
Heart Failure ◽  
Liver Function ◽  
Liver Function Tests ◽  
Abnormal Liver Function ◽  
Adverse Outcomes ◽  
Long Term Outcomes ◽  
Function Tests ◽  
Parameter Values

Abnormal liver function tests (LFTs) are known to be associated with impaired clinical outcomes in heart failure (HF) patients. However, this implication varies with each single LFT panel. We aim to evaluate the long-term outcomes of acute HF (AHF) patients by assessing multiple LFT panels in combination. From a prospective multicenter registry in Japan, 1158 AHF patients who were successfully discharged were analyzed (mean age, 73.9 ± 13.5 years; men, 58%). LFTs (i.e., total bilirubin, aspartate aminotransferase or alanine aminotransferase, and alkaline phosphatase) at discharge were assessed; borderline and abnormal LFTs were defined as 1 and ≥2 parameter values above the normal range, respectively. The primary endpoint was composite of all-cause death or HF readmission. At the time of discharge, 28.7% and 8.6% of patients showed borderline and abnormal LFTs, respectively. There were 196 (16.9%) deaths and 298 (25.7%) HF readmissions during a median 12.4-month follow-up period. The abnormal LFTs group had a significantly higher risk of experiencing the composite outcome (adjusted hazard ratio: 1.51, 95% confidence interval: 1.08–2.12, p = 0.017), whereas the borderline LFTs group was not associated with higher risk of adverse events when referenced to the normal LFTs group. Among AHF patients, the combined elevation of ≥2 LFT panels at discharge was associated with long-term adverse outcomes.

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