scholarly journals A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report

2021 ◽  
pp. 103014
Author(s):  
Ansam Ghzawi ◽  
Hawazen Hirbawi ◽  
Ahmad Negida ◽  
Hussam Abu-Farsakh
2010 ◽  
Vol 52 (2) ◽  
pp. 107-110 ◽  
Author(s):  
Juan Nunura ◽  
Tania Vásquez ◽  
Sergio Endo ◽  
Daniela Salazar ◽  
Alejandrina Rodriguez ◽  
...  

We report a case of severe toxoplasmosis in an immunocompetent patient, characterized by pneumonia, retinochoroiditis, hepatitis and myositis. Diagnosis was confirmed by serology, T. gondii in thick blood smear and presence of bradyzoites in muscle biopsy. Treatment with pyrimethamine plus sulfadoxine was successful but visual acuity and hip extension were partially recovered. This is the first case report of severe toxoplasmosis in an immunocompetent patient from Peru.


2020 ◽  
Vol 77 (11) ◽  
pp. 1216-1220
Author(s):  
Jelena Stevanovic ◽  
Maja Vulovic ◽  
Danijela Pavicevic ◽  
Mihailo Bezmarevic ◽  
Andjelka Stojkovic ◽  
...  

Introduction. Inclusion body myositis (IBM) is a rare form of inflammatory myopathy with a slowly progressive course. It is manifested by early weakness and atrophy of skeletal muscles, especially forearm muscles and the quadriceps. At the very beginning of the disease, clinical symptoms are not pronounced, therefore it is difficult to diagnose. Case report. A forty-eight-year-old female patient visited her doctor due to the weakness of muscles in arms and legs. Five years prior to this, she was treated by a neurologist and a physiatrician on several occasions with different diagnoses for progressive muscle weakness. During the last hospitalization, IBM was diagnosed after the muscle biopsy findings. After the diagnosis, the patient underwent intensive physical therapy in order to preserve the ability to independently perform everyday activities and stability of walk. Conclusion. IBM is a rare clinical entity which often takes several years to be diagnosed. Progressive muscle weakness in elderly should point to possible IBM diagnosis, which is only confirmed by muscle biopsy. Physical therapy has a significant role in the treatment as it leads to improvement of functional abilities of the patients in their daily activities, thus reducing the disability degree.


2015 ◽  
Vol 16 (2) ◽  
pp. 112-114
Author(s):  
NS Neki ◽  
Ishu Singh ◽  
Jasbir Kumar ◽  
Ankur Jain ◽  
Tamil Mani

Hoffman syndrome is characterized by pseudohypertrophy of muscles, muscle’s weakness & stiffness complicating hypothyroidism. We describe the disorder in a 45 years old female admitted with complaints of myalgia, proximal muscle weakness & calf muscle hypertrophy since 11 months. Thyroid function tests, marked elevation of muscle enzyme, electromyogram & muscle biopsy established the diagnosis of thyroid myopathy with Hoffman’s syndrome. Therapy with levothyroxine resulted in marked clinical & biochemical improvements.J MEDICINE July 2015; 16 (2) : 112-114


2007 ◽  
Vol 65 (3b) ◽  
pp. 834-837 ◽  
Author(s):  
Paulo José Lorenzoni ◽  
Carlos Eduardo Silvado ◽  
Rosana Herminia Scola ◽  
Mario Luvizotto ◽  
Lineu César Werneck

The rosuvastatin inducing rhabdomyolysis in McArdle disease (MD) has not been reported to date. A 35-years-old man had exercise intolerance, muscular fatigue and cramps during physical activity since infancy. He presented severe rhabdomyolysis episode with seizure and coma after use of rosuvastatin. The investigation showed increased serum creatinekinase levels and the forearm ischemic exercise did not increased venous lactate. The muscle biopsy showed subsarcolemmal and central acummulation of glycogen and absence of the myophosphorylase enzyme. The statin induced myopathy is discussed and the danger of its use in MD is emphasized.


2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Maryam Sobhani ◽  
Mohammad Amin Tabatabaiefar ◽  
Soudeh Ghafouri-Fard ◽  
Asadollah Rajab ◽  
Asal Hojjat ◽  
...  

2015 ◽  
Vol 3 ◽  
pp. 200-202
Author(s):  
Danielius Serapinas ◽  
Egle Aukstuoliene ◽  
Marius Sukys

2010 ◽  
Vol 16 (1) ◽  
pp. 77-81 ◽  
Author(s):  
Gloria Peiró ◽  
Encarna Adrover ◽  
Jaime Guijarro ◽  
Irene Ballester ◽  
M. José Jimenez ◽  
...  

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