Results 61 to 70 of about 32,645 (198)

Interventional Mechanical Thrombectomy for Limb Salvage in Rapidly Progressive Phlegmasia Cerulea Dolens

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Mechanical thrombectomy can provide rapid, fibrinolysis‐free restoration of venous flow in phlegmasia cerulea dolens. This case highlights an unusually severe course with extensive iliofemorocaval thrombosis, rhabdomyolysis, MRI‐confirmed muscle necrosis, and arterial hypoperfusion despite anticoagulation, in which urgent intervention achieved
Johan Filo, Manuel Stern, Malte Kelm, Lucas Busch, Patricia Wischmann   +4 more
wiley   +1 more source

Niemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia

Iranian South Medical Journal, 2021
Niemann-pick disease is a severe disorder in sphingolipid metabolism and esterification of cholesterol which results in accumulations of sphingomyelin in different tissues.
Amer Yazdanparast, Gholamreza Fathpour, Parvin Jalali   +2 more
doaj  

A Rare Diagnosis of Dubin‐Johnson Syndrome During Pregnancy: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Dubin‐Johnson Syndrome (DJS) is a rare inherited disorder characterized by isolated conjugated hyperbilirubinemia without significant liver damage. This syndrome is often diagnosed incidentally during routine blood tests, as it typically presents with minimal or no symptoms.
Said Reza Modares Mousavi, Farab Pourhasan, Pouria Ahmadi Simab, Sepideh Beikmohammadi‐Gharehsaghghal, Daryoush Kaini‐Shamsabadi, Elaheh Karimzadeh‐Soureshjani   +5 more
wiley   +1 more source

GM1 Gangliosidosis Type 1 and Mongolian Spots

Pediatric Neurology Briefs, 2013
Investigators in Sao Paulo, Brazil, report a female infant born at term to healthy consanguineous parents who was examined at 9 months for delayed development.
J Gordon Millichap
doaj   +1 more source

H Syndrome Associated With Pure Red Cell Aplasia, Rosai–Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same SLC29A3 Mutation

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.
Mohammad Najajrah, Hadeel I. Bouzia, Nermin K. Darawi, Fatima S. Hajjaj, Nour H. Moosa, Noor M. Awad   +5 more
wiley   +1 more source

Hepatosplenic schistosomiasis in field-based studies: a combined clinical and sonographic definition

Memorias do Instituto Oswaldo Cruz, 2001
A combined clinical and sonographic classification of hepatosplenic schistosomiasis mansoni to be used in field-based studies is proposed herein. Seven hundred forty one individuals out of 892 (83%), living in an area endemic for schistosomiasis in ...
José Roberto Lambertucci, Gláucia Fernandes Cota, Rogério Augusto Pinto-Silva, José Carlos Serufo, Rogério Gerspacher-Lara, Sandra Costa Drummond, Carlos Maurício Antunes, Vandack Nobre, Abdunnabi Rayes   +8 more
doaj   +1 more source

Vitamin B12 Deficiency Without Anemia Presenting With Delayed Orthostatic Hypotension in an Adolescent: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT The orthostatic hypotension caused by vitamin B12 deficiency is extremely rare in young individuals. The serum vitamin B12 and anti‐intrinsic factor antibody levels of young patients with orthostatic hypotension should be evaluated regardless of the presence of anemia, and vitamin B12 administration should be promptly initiated.
Kenshin Tanaka, Shun Yamashita, Kota Minami, Yumi Harano, Masaki Tago   +4 more
wiley   +1 more source

Hepatosplenic T-cell lymphoma: A case series

Hematology/Oncology and Stem Cell Therapy, 2015
Hepatosplenic T-cell lymphoma (HSTCL) is a rare type of Non-Hodgkin Lymphoma (NHL), grouped under the mature or peripheral T-cell lymphomas. It is characterised by extranodal infiltration and proliferation of malignant T-cells within the sinusoids of the
Philippa Ashmore, Moosa Patel, Jenifer Vaughan, Tracey Wiggill, Pascale Willem, Eunice van den Berg, Vinitha Philip, Atul Lakha   +7 more
doaj   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, Volume 40, Issue 15, August 2026.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Chiari I Malformation and Intramedullary Hemorrhage in a Female Patient with Klippel Trenaunay Syndrome: A Rare Case Report Study [PDF]

International Journal of Caring Sciences
Chiari I Malformation and Intramedullary Hemorrhage in a Female Patient with Klippel Trenaunay Syndrome: A Rare Case Report ...
Kalliopi Magounaki, Emmanouil Kalafatis, Dimitris Stergiou, Maria Tzaki, Dionysios Vekios, Aggelos Papakalos and Ioannis Kyriazis   +5 more
doaj