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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

Every story we pull is tagged to the disease it’s about — so you can filter to your condition and read only what matters.

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lung adenocarcinoma lung adenocarcinoma in situ+1 moreResearch

A recent study highlights the diagnostic challenges posed by poorly differentiated lung adenocarcinomas that express both ALK and CD30, which can mimic ALK-positive anaplastic large-cell lymphoma. This finding underscores the need for careful differential diagnosis in clinical settings.

poorly differentiated lung adenocarcinomas with concurrent alk and cd30 expression a diagnostic pitfall mimicking alk positive anaplastic large cell lymphoma

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Poorly differentiated lung adenocarcinomas with concurrent ALK and CD30 expression: a diagnostic pitfall mimicking ALK-positive anaplastic large-cell lymphoma.”

keratoconus keratoconus 7+1 moreResearch

A clinical consensus statement on paediatric keratoconus has been published by ERN-EYE, outlining best practices for diagnosis, treatment, and follow-up care. This guidance aims to standardize care for this rare eye condition in children.

paediatric keratoconus an ern eye clinical consensus statement on diagnosis treatment and follow up care

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Paediatric Keratoconus: An ERN-EYE Clinical Consensus Statement on Diagnosis, Treatment and Follow-Up Care.”

Research

A recent study demonstrates successful treatment of Rosenbaum syndrome using left bundle branch area pacing. This innovative approach may offer new therapeutic options for patients with this rare condition.

rosenbaum syndrome successfully treated with left bundle branch area pacing

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Rosenbaum Syndrome Successfully Treated With Left Bundle Branch Area Pacing.”

hereditary angioedemaResearch

A rare case study highlights the presentation and diagnosis of hereditary angioedema in a 7-year-old girl, emphasizing the need for improved management strategies. This case contributes to the understanding of hereditary angioedema and its clinical implications.

rare case of hereditary angioedema in a 7 year old girl presentation diagnosis and bridging the management gap

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A Rare Case of Hereditary Angioedema in a 7-Year-Old Girl: Presentation, Diagnosis, and Bridging the Management Gap.”

idiopathic pulmonary fibrosisResearch

A randomized dose escalation study on inhaled LTI-03 for idiopathic pulmonary fibrosis has been published, providing insights into its potential efficacy. This research contributes to the understanding of treatment options for this challenging condition.

inhaled lti 03 for idiopathic pulmonary fibrosis a randomized dose escalation study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Inhaled LTI-03 for idiopathic pulmonary fibrosis: a randomized dose escalation study.”

acromegalyResearch

A cross-sectional study evaluates nurses' knowledge and awareness of acromegaly in a high-volume tertiary center. The findings may inform training programs to enhance care for patients with this rare disease.

assessment of nurses knowledge and awareness of acromegaly in a high volume tertiary center a cross sectional study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Assessment of nurses' knowledge and awareness of acromegaly in a high-volume tertiary center: a cross-sectional study.”

diffuse midline glioma, H3 K27-altered diffuse midline glioma, H3 K27M-mutantResearch

A real-world cohort study provides new insights into the clinicopathological characteristics and prognostic factors of H3 K27M-altered diffuse midline gliomas. This research enhances understanding of this aggressive brain tumor subtype, which is critical for developing targeted therapies.

clinicopathological characterization and prognostic factors of h3 k27m altered diffuse midline gliomas a real world cohort study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Clinicopathological characterization and prognostic factors of H3 K27M-altered diffuse midline gliomas: A real-world cohort study.”

Research

A recent study explores the clinicopathological features and outcomes of monoclonal immunoglobulin-associated kidney lesions with coexistent pathological patterns. This research may provide insights into the complexities of kidney diseases associated with monoclonal gammopathy.

monoclonal immunoglobulin associated kidney lesions with coexistent pathological patterns clinicopathological features and outcomes

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Monoclonal immunoglobulin-associated kidney lesions with coexistent pathological patterns: clinicopathological features and outcomes.”

spinal muscular atrophy infantile-onset X-linked spinal muscular atrophyResearch

A recent study highlights the presence of spinal muscular atrophy in adult neurology services in India, emphasizing the need for increased awareness and diagnosis in this population. The findings suggest that SMA may be underrecognized in adults, impacting treatment and support.

spinal muscular atrophy in adult neurology services in india

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Spinal Muscular Atrophy in Adult Neurology Services in India.”

B-cell acute lymphoblastic leukemia precursor B-cell acute lymphoblastic leukemiaResearch

A case report highlights the spontaneous regression of B-cell acute lymphoblastic leukemia (B-ALL) associated with PAX5 alterations during relapse. This finding may provide insights into the mechanisms of leukemia regression and potential therapeutic targets.

spontaneous regression of b cell acute lymphoblastic leukemia with pax5 alterations at relapse a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Spontaneous regression of B-cell acute lymphoblastic leukemia with PAX5 alterations at relapse: a case report.”

familial chylomicronemia syndromeResearch

A case report details a one-year follow-up of a patient with familial chylomicronemia syndrome, focusing on lipid profile and growth development. This study contributes to understanding the clinical progression of this rare genetic disorder.

case report of familial chylomicronemia syndrome with infantile onset one year follow up on lipid profile and growth development

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One-Year Follow-Up on Lipid Profile and Growth Development.”

type 1 diabetes mellitus type 1 diabetes mellitus 7+1 moreResearch

New clinical recommendations have been published for managing patients with type 1 diabetes in special situations. These guidelines aim to improve care and outcomes for this patient population.

clinical recommendations for the management of patients with type 1 diabetes in special situations

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Clinical recommendations for the management of patients with type 1 diabetes in special situations.”

blue rubber bleb nevusResearch

A case study highlights blue rubber bleb nevus syndrome as a rare cause of severe transfusion-dependent anemia in an elderly patient, leading to lower gastrointestinal bleeding. This unusual presentation underscores the need for awareness of this syndrome in clinical settings.

blue rubber bleb nevus syndrome presenting as severe transfusion dependent anemia in an elderly patient an unusual cause of lower gastrointestinal bleeding

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Blue Rubber Bleb Nevus Syndrome Presenting as Severe Transfusion-Dependent Anemia in an Elderly Patient: An Unusual Cause of Lower Gastrointestinal Bleeding.”

rhabdomyolysis-myalgia syndromeResearch

A case report highlights severe systemic myotoxicity and massive rhabdomyolysis following Ovophis anitae envenomation. This research contributes to understanding the toxicological effects of snake bites, particularly in rare cases.

severe systemic myotoxicity with massive rhabdomyolysis following ovophis anitae envenomation a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Severe systemic myotoxicity with massive rhabdomyolysis following Ovophis anitae envenomation: a case report.”

Research

A retrospective case series evaluates the effectiveness of voice therapy combined with steroid injections for treating bamboo nodes of the vocal folds. The findings contribute to understanding management strategies for this vocal condition.

voice therapy and vocal fold steroid injection for bamboo nodes of the vocal folds a retrospective case series

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Voice Therapy and Vocal Fold Steroid Injection for Bamboo Nodes of the Vocal Folds: A Retrospective Case Series.”

juvenile Paget diseaseResearch

A study identifies a homozygous intronic variant in the TNFRSF11B gene linked to early-onset juvenile Paget disease. This research provides insights into the genetic underpinnings of the disease over a two-year follow-up period.

early onset juvenile paget disease associated with a homozygous intronic tnfrsf11b variant a 2 year follow up

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Early-onset juvenile Paget disease associated with a homozygous intronic TNFRSF11B variant: a 2-year follow-up.”

pyoderma gangrenosum pyoderma gangrenosum-acne-suppurative hidradenitis syndromeResearch

A recent study highlights the occurrence of postoperative pyoderma gangrenosum as a rare surgical mimic following varicose vein surgery. Recognizing this condition early is crucial to prevent extensive tissue loss.

postoperative pyoderma gangrenosum following varicose vein surgery recognizing a rare surgical mimic before extensive tissue loss

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Postoperative Pyoderma Gangrenosum Following Varicose Vein Surgery: Recognizing a Rare Surgical Mimic Before Extensive Tissue Loss.”

Research

A systematic review and meta-analysis evaluates the safety and efficacy of ureteroscopy in patients on systemic anticoagulants. The findings provide insights into perioperative management strategies for this patient population.

ureteroscopy in patients receiving systemic anticoagulants a systematic review and meta analysis of safety efficacy and perioperative management

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Ureteroscopy in Patients Receiving Systemic Anticoagulants: A Systematic Review and Meta-analysis of Safety, Efficacy, and Perioperative Management.”

neonatal sepsisResearch

A case report highlights early-onset neonatal sepsis caused by Globicatella sanguinis/sulfidifaciens, contributing to the understanding of rare infectious agents in neonates. This discovery may inform future diagnostic and treatment approaches.

early onset neonatal sepsis caused by globicatella sanguinis sulfidifaciens case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Early-Onset Neonatal Sepsis Caused by Globicatella sanguinis/sulfidifaciens : Case Report.”

hepatocellular carcinoma pediatric hepatocellular carcinoma+1 moreResearch

Recent research highlights the role of SMYD2 inhibition in overcoming immune resistance in Wnt-driven hepatocellular carcinoma (HCC). This study provides insights into potential therapeutic strategies targeting this pathway.

unmasking wnt driven hcc inhibiting smyd2 to overcome immune resistance

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Unmasking Wnt-driven HCC: Inhibiting SMYD2 to overcome immune resistance.”

Previous195 / 484Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent study highlights the diagnostic challenges posed by poorly differentiated lung adenocarcinomas that express both ALK and CD30, which can mimic ALK-positive anaplastic large-cell lymphoma. This finding underscores the need for careful differential diagnosis in clinical settings.

A clinical consensus statement on paediatric keratoconus has been published by ERN-EYE, outlining best practices for diagnosis, treatment, and follow-up care. This guidance aims to standardize care for this rare eye condition in children.

A recent study demonstrates successful treatment of Rosenbaum syndrome using left bundle branch area pacing. This innovative approach may offer new therapeutic options for patients with this rare condition.

A rare case study highlights the presentation and diagnosis of hereditary angioedema in a 7-year-old girl, emphasizing the need for improved management strategies. This case contributes to the understanding of hereditary angioedema and its clinical implications.

A randomized dose escalation study on inhaled LTI-03 for idiopathic pulmonary fibrosis has been published, providing insights into its potential efficacy. This research contributes to the understanding of treatment options for this challenging condition.

A cross-sectional study evaluates nurses' knowledge and awareness of acromegaly in a high-volume tertiary center. The findings may inform training programs to enhance care for patients with this rare disease.

A real-world cohort study provides new insights into the clinicopathological characteristics and prognostic factors of H3 K27M-altered diffuse midline gliomas. This research enhances understanding of this aggressive brain tumor subtype, which is critical for developing targeted therapies.

A recent study explores the clinicopathological features and outcomes of monoclonal immunoglobulin-associated kidney lesions with coexistent pathological patterns. This research may provide insights into the complexities of kidney diseases associated with monoclonal gammopathy.

A recent study highlights the presence of spinal muscular atrophy in adult neurology services in India, emphasizing the need for increased awareness and diagnosis in this population. The findings suggest that SMA may be underrecognized in adults, impacting treatment and support.

A case report highlights the spontaneous regression of B-cell acute lymphoblastic leukemia (B-ALL) associated with PAX5 alterations during relapse. This finding may provide insights into the mechanisms of leukemia regression and potential therapeutic targets.

A case report details a one-year follow-up of a patient with familial chylomicronemia syndrome, focusing on lipid profile and growth development. This study contributes to understanding the clinical progression of this rare genetic disorder.

New clinical recommendations have been published for managing patients with type 1 diabetes in special situations. These guidelines aim to improve care and outcomes for this patient population.

A case study highlights blue rubber bleb nevus syndrome as a rare cause of severe transfusion-dependent anemia in an elderly patient, leading to lower gastrointestinal bleeding. This unusual presentation underscores the need for awareness of this syndrome in clinical settings.

A case report highlights severe systemic myotoxicity and massive rhabdomyolysis following Ovophis anitae envenomation. This research contributes to understanding the toxicological effects of snake bites, particularly in rare cases.

A retrospective case series evaluates the effectiveness of voice therapy combined with steroid injections for treating bamboo nodes of the vocal folds. The findings contribute to understanding management strategies for this vocal condition.

A study identifies a homozygous intronic variant in the TNFRSF11B gene linked to early-onset juvenile Paget disease. This research provides insights into the genetic underpinnings of the disease over a two-year follow-up period.

A recent study highlights the occurrence of postoperative pyoderma gangrenosum as a rare surgical mimic following varicose vein surgery. Recognizing this condition early is crucial to prevent extensive tissue loss.

A systematic review and meta-analysis evaluates the safety and efficacy of ureteroscopy in patients on systemic anticoagulants. The findings provide insights into perioperative management strategies for this patient population.

A case report highlights early-onset neonatal sepsis caused by Globicatella sanguinis/sulfidifaciens, contributing to the understanding of rare infectious agents in neonates. This discovery may inform future diagnostic and treatment approaches.

Recent research highlights the role of SMYD2 inhibition in overcoming immune resistance in Wnt-driven hepatocellular carcinoma (HCC). This study provides insights into potential therapeutic strategies targeting this pathway.

Not rare diseases news,
news about your rare disease.