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What's new in your rare disease | Kisho

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news about your rare disease.

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acute pancreatitis recurrent acute pancreatitis+1 moreResearch

A case report highlights hemobilia as a complication of transjugular liver biopsy, leading to acute pancreatitis and obstructive jaundice. This minireview provides insights into the clinical implications of this rare occurrence.

hemobilia as a complication of transjugular liver biopsy causing acute pancreatitis and obstructive jaundice a case report and minireview

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Hemobilia as a Complication of Transjugular Liver Biopsy Causing Acute Pancreatitis and Obstructive Jaundice: A Case Report and Minireview.”

Research

A recent study highlights the risk of exotic disease introduction and propagation within the Austrian swine trade network. This research underscores the need for enhanced biosecurity measures to protect livestock health.

risk of exotic disease introduction and propagation in the austrian swine trade network

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Risk of exotic disease introduction and propagation in the Austrian swine trade network.”

Becker muscular dystrophy symptomatic form of muscular dystrophy of Duchenne and Becker in female carriersResearch

A new expert consensus from China outlines the diagnosis and treatment protocols for Becker muscular dystrophy, aiming to standardize care for this rare condition. This consensus may enhance clinical practices and improve patient outcomes.

chinese expert consensus on the diagnosis and treatment of becker muscular dystrophy

PubMed Rare Disease·9 months ago·Read at source →

Original title: “[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].”

liver disease, severe congenital polycystic liver disease 2+1 moreResearch

A recent case study highlights pseudohyponatremia in a patient with severe liver disease, shedding light on the complexities of electrolyte imbalances in this population. This finding may influence clinical approaches to managing sodium levels in patients with liver conditions.

a case of pseudohyponatremia in a patient with severe liver disease

PubMed Rare Disease·9 months ago·Read at source →

Original title: “[A case of pseudohyponatremia in a patient with severe liver disease].”

neurodegenerative diseaseResearch

Recent research highlights that aberrant protein S-nitrosylation can replicate the effects of rare genetic mutations in neurodegenerative diseases. This discovery may open new avenues for understanding disease mechanisms and developing targeted therapies.

aberrant protein s nitrosylation mimics the effect of rare genetic mutations in neurodegenerative diseases

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Aberrant Protein S-Nitrosylation Mimics the Effect of Rare Genetic Mutations in Neurodegenerative Diseases.”

Research

A case report details a rare surgical complication involving an iatrogenic left circumflex artery aneurysm that fistulized to the coronary sinus after mitral valve replacement. This highlights the potential risks associated with cardiac surgeries.

iatrogenic left circumflex artery aneurysm with fistulization to the coronary sinus following mitral valve replacement a rare surgical complication case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Iatrogenic left circumflex artery aneurysm with fistulization to the coronary sinus following mitral valve replacement: a rare surgical complication case report.”

systemic sclerosis limited systemic sclerosis+1 moreResearch

A recent retrospective cohort study investigates the impact of hydroxychloroquine on mortality and cardiovascular outcomes in systemic sclerosis. The findings contribute to understanding treatment efficacy in this rare disease.

impact of hydroxychloroquine on mortality and cardiovascular outcomes in systemic sclerosis a retrospective cohort study

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Impact of Hydroxychloroquine on Mortality and Cardiovascular Outcomes in Systemic Sclerosis: A Retrospective Cohort Study.”

digestive system mixed adenoneuroendocrine carcinomaResearch

A case report details a 52-year-old male diagnosed with mixed adenoneuroendocrine carcinoma of the stomach following total D2 gastrectomy. This case contributes to the understanding of MANEC, a rare and complex tumor type.

mixed adenoneuroendocrine carcinoma manec of the stomach a case report in a 52 year old male following total d2 gastrectomy

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Mixed Adenoneuroendocrine Carcinoma (MANEC) of the Stomach: A Case Report in a 52-Year-Old Male Following Total D2 Gastrectomy.”

Research

A recent study discusses the implementation of patient retreats during dose escalation phases of Phase I clinical trials for rare diseases. This approach aims to enhance patient engagement and optimize trial outcomes.

patient retreat in dose escalation for phase i clinical trials with rare diseases

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Patient Retreat in Dose Escalation for Phase I Clinical Trials With Rare Diseases.”

intestinal schistosomiasisResearch

A case report from Egypt highlights bleeding rectal polyp as an atypical presentation of intestinal schistosomiasis. This finding may enhance understanding of the disease's manifestations and improve diagnosis.

bleeding rectal polyp as an atypical presentation of intestinal schistosomiasis a case report from egypt

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Bleeding rectal polyp as an atypical presentation of intestinal schistosomiasis: A case report from Egypt.”

Research

A new study explores the selection for function in complex distributed pathological systems, providing insights into disease mechanisms. This research could inform future therapeutic strategies for rare diseases.

selection for function in complex distributed pathological systems

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Selection for Function in Complex Distributed Pathological Systems.”

intracerebral hemorrhageResearch

A case report details extensive intracerebral hemorrhage in a triplet pregnancy following in vitro fertilization, highlighting complications that can arise in such scenarios. This study contributes to the understanding of rare pregnancy-related neurological events.

extensive intracerebral hemorrhage involving basal ganglia and frontal lobe with intraventricular and subarachnoid extension in a triplet pregnancy following in vitro fertilization a case report and review

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Extensive Intracerebral Hemorrhage Involving Basal Ganglia and Frontal Lobe With Intraventricular and Subarachnoid Extension in a Triplet Pregnancy Following In Vitro Fertilization: A Case Report and Review.”

optic perineuritisResearch

A rare case study highlights the concurrent presentation of idiopathic intracranial hypertension and bilateral optic perineuritis in a young boy. This unique clinical entity contributes to the understanding of these conditions and their potential overlap.

concurrent presentation of idiopathic intracranial hypertension and bilateral optic perineuritis in a young boy a rare clinical entity

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Concurrent Presentation of Idiopathic Intracranial Hypertension and Bilateral Optic Perineuritis in a Young Boy: A Rare Clinical Entity.”

Research

A case report details an idiopathic renal infarct in a healthy adult with an accessory renal artery, contributing to the understanding of renal vascular anomalies. This case highlights the potential for unexpected renal complications in otherwise healthy individuals.

idiopathic renal infarct in a healthy adult with an accessory renal artery a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Idiopathic Renal Infarct in a Healthy Adult With an Accessory Renal Artery: A Case Report.”

chronic granulomatous diseaseResearch

A recent study published in PubMed provides clinical and molecular characterization of Brazilian patients with chronic granulomatous disease. This research enhances understanding of the disease's genetic and clinical profiles in this population.

chronic granulomatous disease clinical and molecular characterization of brazilian patients

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.”

Research

A study identifies a novel PORCN variant (c.1093C>T, p.Arg365Trp) in a 12-year-old girl with Goltz-Gorlin syndrome. This discovery adds to the understanding of genetic mutations associated with this rare condition.

identification of a porcn c 1093c t p arg365trp variant in a 12 year old girl with goltz gorlin syndrome

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.”

disseminated peritoneal leiomyomatosis disseminatedResearch

A new case report on disseminated peritoneal leiomyomatosis provides insights into this rare condition. The findings contribute to the understanding of its clinical presentation and management.

disseminated peritoneal leiomyomatosis a case report

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Disseminated peritoneal leiomyomatosis: A case report.”

mycosis fungoides mycosis fungoides variant+1 moreResearch

A phase 2 trial evaluated resminostat as a maintenance treatment for patients with advanced-stage mycosis fungoides or Sézary syndrome. The study was multicenter, double-blind, and randomized, providing insights into the drug's efficacy in this rare skin lymphoma.

resminostat for maintenance treatment in patients with advanced stage mycosis fungoides or s zary syndrome a multicentre double blind randomised placebo controlled phase 2 trial

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Resminostat for maintenance treatment in patients with advanced-stage mycosis fungoides or Sézary syndrome: a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.”

Research

A recent study published in PubMed details the clinical characteristics and outcomes of adult patients with Hafnia alvei bacteremia. The findings contribute to the understanding of this rare infection and its impact on patient health.

clinical characteristics and outcomes of adult patients with hafnia alvei bacteremia in a tertiary care hospital

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Clinical characteristics and outcomes of adult patients with Hafnia alvei bacteremia in a tertiary care hospital.”

epilepsy epilepsy, X-linked 1, with variable learning disabilities and behavior disorders+1 moreResearch

A case report details a patient with Rasmussen's encephalitis who experienced a decade of refractory epilepsy and hemispheric atrophy. This study contributes to the understanding of the disease's progression and potential treatment challenges.

case report of rasmussen s encephalitis with a decade of refractory epilepsy and hemispheric atrophy

PubMed Rare Disease·9 months ago·Read at source →

Original title: “Case Report of Rasmussen's Encephalitis With a Decade of Refractory Epilepsy and Hemispheric Atrophy.”

Previous480 / 489Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report highlights hemobilia as a complication of transjugular liver biopsy, leading to acute pancreatitis and obstructive jaundice. This minireview provides insights into the clinical implications of this rare occurrence.

A recent study highlights the risk of exotic disease introduction and propagation within the Austrian swine trade network. This research underscores the need for enhanced biosecurity measures to protect livestock health.

A new expert consensus from China outlines the diagnosis and treatment protocols for Becker muscular dystrophy, aiming to standardize care for this rare condition. This consensus may enhance clinical practices and improve patient outcomes.

A recent case study highlights pseudohyponatremia in a patient with severe liver disease, shedding light on the complexities of electrolyte imbalances in this population. This finding may influence clinical approaches to managing sodium levels in patients with liver conditions.

Recent research highlights that aberrant protein S-nitrosylation can replicate the effects of rare genetic mutations in neurodegenerative diseases. This discovery may open new avenues for understanding disease mechanisms and developing targeted therapies.

A case report details a rare surgical complication involving an iatrogenic left circumflex artery aneurysm that fistulized to the coronary sinus after mitral valve replacement. This highlights the potential risks associated with cardiac surgeries.

A recent retrospective cohort study investigates the impact of hydroxychloroquine on mortality and cardiovascular outcomes in systemic sclerosis. The findings contribute to understanding treatment efficacy in this rare disease.

A case report details a 52-year-old male diagnosed with mixed adenoneuroendocrine carcinoma of the stomach following total D2 gastrectomy. This case contributes to the understanding of MANEC, a rare and complex tumor type.

A recent study discusses the implementation of patient retreats during dose escalation phases of Phase I clinical trials for rare diseases. This approach aims to enhance patient engagement and optimize trial outcomes.

A case report from Egypt highlights bleeding rectal polyp as an atypical presentation of intestinal schistosomiasis. This finding may enhance understanding of the disease's manifestations and improve diagnosis.

A new study explores the selection for function in complex distributed pathological systems, providing insights into disease mechanisms. This research could inform future therapeutic strategies for rare diseases.

A case report details extensive intracerebral hemorrhage in a triplet pregnancy following in vitro fertilization, highlighting complications that can arise in such scenarios. This study contributes to the understanding of rare pregnancy-related neurological events.

A rare case study highlights the concurrent presentation of idiopathic intracranial hypertension and bilateral optic perineuritis in a young boy. This unique clinical entity contributes to the understanding of these conditions and their potential overlap.

A case report details an idiopathic renal infarct in a healthy adult with an accessory renal artery, contributing to the understanding of renal vascular anomalies. This case highlights the potential for unexpected renal complications in otherwise healthy individuals.

A recent study published in PubMed provides clinical and molecular characterization of Brazilian patients with chronic granulomatous disease. This research enhances understanding of the disease's genetic and clinical profiles in this population.

A study identifies a novel PORCN variant (c.1093C>T, p.Arg365Trp) in a 12-year-old girl with Goltz-Gorlin syndrome. This discovery adds to the understanding of genetic mutations associated with this rare condition.

A new case report on disseminated peritoneal leiomyomatosis provides insights into this rare condition. The findings contribute to the understanding of its clinical presentation and management.

A phase 2 trial evaluated resminostat as a maintenance treatment for patients with advanced-stage mycosis fungoides or Sézary syndrome. The study was multicenter, double-blind, and randomized, providing insights into the drug's efficacy in this rare skin lymphoma.

A recent study published in PubMed details the clinical characteristics and outcomes of adult patients with Hafnia alvei bacteremia. The findings contribute to the understanding of this rare infection and its impact on patient health.

A case report details a patient with Rasmussen's encephalitis who experienced a decade of refractory epilepsy and hemispheric atrophy. This study contributes to the understanding of the disease's progression and potential treatment challenges.

Not rare diseases news,
news about your rare disease.