Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis

Bone ◽  
2022 ◽  
Vol 154 ◽  
pp. 116229
Author(s):  
Ehud Even-Or ◽  
Gali Schiesel ◽  
Natalia Simanovsky ◽  
Adeeb NaserEddin ◽  
Irina Zaidman ◽  
...  
Keyword(s):  
Clinical Presentation

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

An Overview of Dementias

2012 ◽  
Vol 21 (3) ◽  
pp. 75-84
Author(s):  
Venkata Vijaya K. Dalai ◽  
Jason E. Childress ◽  
Paul E Schulz
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Current Treatment ◽  
Great Variability ◽  
Health Concern ◽  
Public Health Concern ◽  
Life Threatening ◽  
The Common ◽  
Neurodegenerative Dementias ◽  
Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

Ruptured abdominal aortic aneurysms: Clinical presentation in Auckland 1993-1997

2001 ◽  
Vol 71 (6) ◽  
pp. 341-344
Author(s):  
Johanna Rose ◽  
Ian Civil ◽  
Timothy Koelmeyer ◽  
David Haydock ◽  
Dave Adams
Keyword(s):  
Clinical Presentation ◽  
Abdominal Aortic Aneurysms ◽  
Aortic Aneurysms ◽  
Abdominal Aortic ◽  
Ruptured Abdominal Aortic Aneurysms

Abstract #137: Combined Clinical Presentation of Allgrove’s Syndrome and 47xxx Syndrome in a 14 Year Old Girl

2016 ◽  
Vol 22 ◽  
pp. 21
Author(s):  
Sri Nagesh. V ◽  
Y. Muralidhar Reddy ◽  
Prajnya Ranganath ◽  
Vikrant Reddy
Keyword(s):  
Clinical Presentation

A dreadful sign of aortic dissection: Aortic intimo-intimal intussusception with prominent intimal flap prolapsing into the left ventricular apex

VASA ◽  
2009 ◽  
Vol 38 (2) ◽  
pp. 181-184 ◽  
Author(s):  
Ozer ◽  
Davutoglu ◽  
Burma ◽  
Sucu ◽  
Sarı
Keyword(s):  
Aortic Dissection ◽  
Clinical Presentation ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Acute Type ◽  
Clinical Form ◽  
Intimal Flap ◽  
Acute Type A Dissection ◽  
Type A Dissection ◽  
Intimal Intussusception

Intimo-intimal intussusception is an unusual clinical form of aortic dissection resulting from circumferential detachment of the intima. Clinical presentation varies according to the level of detached intima in the aorta. We present a case of acute type A dissection with prominent prolapse of the circumferential detachment intimal flap into the left ventricular cavity extended to the apex.

Phlegmasia cerulea dolens – an uncommon but alarming manifestation of deep vein thrombosis

VASA ◽  
2020 ◽  
Vol 49 (5) ◽  
pp. 422-426
Author(s):  
Manuela Nickler ◽  
Sebastian Haubitz ◽  
Adriana Méndez ◽  
Martin Gissler ◽  
Peter Stierli ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Bleeding Risk ◽  
Venous Intervention ◽  
Aggressive Treatment ◽  
Vein Thrombosis ◽  
Prompt Treatment ◽  
Surgical Thrombectomy ◽  
Deep Vein ◽  
Phlegmasia Cerulea Dolens

Summary: In phlegmasia cerulea dolens (PCD), immediate diagnosis and prompt treatment is crucial for limb salvage. Aggressive treatment options including venous intervention, thrombolysis and/or surgical thrombectomy should be considered. Due to the lack of data, the most appropriate intervention depends upon etiology of PCD, clinical presentation and patient’s bleeding risk.

Mid-aortic syndrome: computed tomography angiography depicting extensive collateral circulation in an 11-year-old patient with thoracoabdominal aortic coarctation

VASA ◽  
2012 ◽  
Vol 41 (2) ◽  
pp. 132-135 ◽  
Author(s):  
Krohn ◽  
Gebauer ◽  
Hübler ◽  
Beck
Keyword(s):  
Computed Tomography ◽  
Computed Tomography Angiography ◽  
Collateral Circulation ◽  
Intestinal Ischemia ◽  
Clinical Presentation ◽  
Lower Limbs ◽  
Upper Body ◽  
Descending Aorta ◽  
Before And After ◽  
Blood Pressures

The mid-aortic syndrome is an uncommon clinical condition characterized by severe narrowing of the descending aorta, usually with involvement of its renal and visceral branches, presenting with uncontrollably elevated blood pressures of the upper body, renal and cardiac failure, intestinal ischemia, encephalopathy symptoms and claudication of the lower limbs, although clinical presentation is variable. In this article we report the case of an eleven-year-old patient with the initial diagnosis of a mid-aortic syndrome and present the computed tomography angiography pictures and reconstructions before and after surgical therapy.

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