Efficacy and safety of ledipasvir/sofosbuvir versus elbasvir/grazoprevir in treatment of genotype 1b chronic hepatitis C / 中华临床感染病杂志

Objective:To compare the clinical efficacy and safety of ledipasvir/sofosbuvir (LDV/SOF) and elbasvir/grazoprevir (EBR/GZR) in treatment of patients with chronic hepatitis C (CHC).Methods:The clinical data of 143 patients with genotype 1b CHC treated in Huzhou Central Hospital from January 2020 to December 2021 were retrospectively analyzed, including 74 cases treated with LDV/SOF and 69 cases treated with EBR/GZR. The virological response after 4 and 12 weeks of treatment and 12wk after drug withdrawal was determined; and the serological and liver inflammation indexes before and after treatment in two groups were compared. SPSS 25.0 software was used for statistical analysis of the data.Results:The virological response rates of the LDV/SOF group and EBR/GZR group were 97.30% and 98.55%, 98.65% and 100.00%, 97.30% and 98.55% after 4 and 12 weeks of treatment and 12 weeks after the end of treatment, respectively (all P > 0.05). At the end of treatment, the liver inflammation indexes ALT, AST and GGT in the two groups were significantly lower than the baseline levels ( Z=-7.470 and -6.974, -9.757 and -6.832, -3.578 and -4.054, P<0.01). Adverse reactions in both groups were mild, and no serious adverse events occurred. Conclusion:Both LDV/SOF and EBR/GZR have good clinical efficacy in the treatment of genotype 1b CHC patients. And the patients are well tolerated.

Pseudo hypoaldosteronism type 1B due to novel deletion mutation in SCNN1A gene

Pseudo hypoaldosteronism type 1B (PHA1B) is a systemic form of salt wasting. Children present after the first week of life with typical symptoms of an adrenal crisis. PHA1B is caused by autosomal recessive homozygous mutations in genes encoding epithelial sodium channels (ENaC) subunits ?, ? and ?. ENaC are widespread and present in renal tubules, airways, colon, sweat and salivary glands. Electrolyte imbalance is significant with severe hyponatremia, hyperkalemia and metabolic acidosis. In early life until approximately one year of age electrolytes remain unstable despite active management but then gradually improve. The mainstay of treatment is high dose salt replacement, sodium bicarbonate and sodium polystyrene therapy. The adequate treatment and monitoring can result in normal physical and psychomotor development. We present a case of PHA1B with severe intractable electrolyte imbalances in neonatal period. The genetic sequence revealed a novel homozygous deletion mutation in exon 4 of the SCNN1A gene (c.942delC, p.N315Tfs*16).

Clinical and gene methylation analysis of type 1b pseudohypoparathyroidism / 中华内分泌代谢杂志

Objective This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease. Methods Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed. Results There were 4 females and 1 male, with low calcium, high phosphorus and high PTH seran con centrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There wer was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification ( MS-MLPA ) detection while gene sequeming result was negative. Conclusion MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.

Clinical and gene methylation analysis of type 1b pseudohypoparathyroidism / 中华内分泌代谢杂志

Objective@#This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease.@*Methods@#Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed.@*Results@#There were 4 females and 1 male, with low calcium, high phosphorus and high PTH serum concentrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) detection while gene sequencing result was negative.@*Conclusion@#MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. METHODS: We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy. RESULTS: Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients. CONCLUSIONS: Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiagnosed muscular dystrophy or laminopathy.

Open Repair of Triangular Fibrocartilage Complex Type 1B Tear

Most common traumatic type 1B tear of triangular fibrocartilage complex (TFCC), according to the Palmer's classification, may lead to the loss of the stability of distal radioulnar joint and is known to be one cause of the persisted ular side wrist pain. Recently as the knowledge of the anatomical structures of the TFCC accumulates and the deep fiber of the distal radioulnar ligament is recognized to play a central role, an attempt to repair it to the original ulnar fovea insertion site has been done and reported successful results. Since the introduction of open technique, numerous arthroscopic technique has been developing. Here careful considerations ought to be given during open repair will be taken with review of the related articles.

Clinical Outcomes of Open Surgical Repair for Triangular Fibrocartilage Complex Foveal Detachment

PURPOSE: To investigate short term clinical outcomes of the open surgical repair for triangular fibrocartilage complex (TFCC) foveal detachment. METHODS: We retrospectively reviewed 8 patients (5 men, 3 women) who had been treated with open surgical repair of the TFCC type 1B injury, from 2005 to 2013 and who were followed up for more than one year after surgery. Mean age at time of surgery was 34 years. The right side was involved in 3 patients, and the left in 5. The clinical results of surgery were assessed with modified Mayo wrist score (MMWS), disabilities of the arm, shoulder and hand (DASH) score and pain-visual analogue scale (VAS). Physical examination was performed to evaluate the prescence of distal radioulnar instability, preoperatively and at the latest follow-up. RESULTS: The mean follow up period were 36.5 months (range, 12-64 months). The mean MMWS improved from 52.5 (range, 25-85) preoperatively to 82.5 (range, 75-100) postoperatively (p=0.02). The mean DASH score improved from 39.6 (range, 65-13.5) preoperatively to 13.4 (range, 2.5-33.3) postoperatively (p=0.012). The preoperative mean pain-VAS was 4.6 (range, 6-3); these value was reduced to mean 2 (range, 0-3) at the latest follow-up (p=0.016). There were no patients remaining instability after the surgery, although four patients showed distal radioulnar joint (DRUJ) instability before surgery. CONCLUSION: The surgical outcomes of open repair for TFCC foveal detachment (type 1B) was contentable. Also, in cases of type 1B injury associated with DRUJ instability were managed sucessfully without additional procedure.