scholarly journals Review of Two Siblings with Werner's Syndrome: A Case Report

2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
Murat Sert ◽  
Koray Fakioglu ◽  
Tamer Tetiker

We report the clinical course of two siblings with Werner's syndrome (WS) who were diagnosed and followed at our clinics for 12 years. Initial diagnosis of the first sibling (sister) was at age 20, the second (brother) at 16. At the initial diagnosis, the sister had amenorrhea, muscle atrophy at arms and legs, diabetes mellitus (DM), short stature, bilateral cataracts, genital hypoplasia, osteoporosis, and gray hair. During 12 years follow-up period, high-pitched voice, hepatosteatosis, renal parenchymal disease, and urethral obstruction developed. Regarding the brother, DM, cataracts and genital hypoplasia were observed at the initial diagnosis. During the 12 years follow-up period, gray hair, high-pitched voice, steatohepatosis, and osteoporosis developed.

2004 ◽  
Vol 128 (2) ◽  
pp. 210-213 ◽  
Author(s):  
Peter M. Voorhees ◽  
Kathryn A. Carder ◽  
Scott V. Smith ◽  
Lanier H. Ayscue ◽  
Kathleen W. Rao ◽  
...  

Abstract Follicular lymphoma is an indolent lymphoma characterized by the (14;18) translocation, which leads to aberrant expression of Bcl-2. Translocations involving 8q24 are most commonly associated with Burkitt lymphoma and result in c-Myc overexpression. We report a case of follicular lymphoma of predominant small cleaved-cell type (grade 1) associated with both a t(14;18)(q32;q21) and a t(8;22)(q24;q11). The 8q24 translocation predicted an aggressive clinical course, as the lymphoma transformed into acute lymphoblastic leukemia within a year of initial diagnosis. Routine cytogenetic analysis is recommended at initial diagnosis of follicular lymphoma to better identify abnormalities that may predict prognosis and influence therapy.


2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Elizabeth Bellew ◽  
Samantha Lee ◽  
Hiren Patel ◽  
Carolyn Fein Levy ◽  
Rachelle Goldfisher ◽  
...  

We present a 14-year-old boy with peritoneal epithelial malignant mesothelioma (PEMM). While pathology is required to make this diagnosis, radiology plays a crucial role throughout the clinical course of this disease. The key imaging characteristics of peritoneal mesothelioma have been previously well-described in the adult population, but there are rare reports in the pediatric population. This pediatric report highlights the multidimensional use of imaging in this disease, from the initial evaluation to therapeutic supplementation and subsequent follow-up.


1984 ◽  
Vol 21 (2) ◽  
pp. 191-197 ◽  
Author(s):  
Carlomaurizio Montecucco ◽  
Giuseppe Attardo-Parrinello ◽  
Giuseppe Brambilla ◽  
Enrico L. Chérié-Lignière ◽  
Edoardo Ascari

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jo-Anne Janson ◽  
Arthur T. M. Wasylewicz ◽  
Marianne Eijkemans ◽  
Marieke Kerskes

Abstract Background In contrast to intoxications in toddlers which can be due to accidental ingestions, many intoxications in infants are due to medication errors. To our knowledge, this is the first case report of a citalopram intoxication in an infant, and may offer new insight on possible screening methods for intoxication as well as pharmacokinetics of citalopram in small infants. Case presentation This case report describes an unintentional citalopram intoxication in a 4 week old infant due to a vitamin D drops ‘look alike’ error. The infant showed extreme jitteriness and opisthotonus at presentation, as well as prolonged signs of gastro-oesophageal reflux. No cardiac rhythm disturbances or convulsions were seen. The clinical course combined with Finnegan scores was correlated to and supported by pharmacokinetic and pharmacokinetic data of citalopram in the patient. Conclusions Using Finnegan scores in general pediatric practice could help objectify follow-up of acute intoxications in young infants with neurological symptoms.


2013 ◽  
Vol 85 (3) ◽  
pp. 154 ◽  
Author(s):  
Orestis Porfyris ◽  
Paraskevas Kalomoiris

We report a case of prostatic abscess in a 52 year old male with a history of diabetes mellitus. The abscess was treated successfully with surgical drainage by transurethral unroofing of the cavity of the abscess. The use of transrectal ultrasound is valuable in the diagnosis, treatment and follow up of the abscess, while drainage is usually necessary for the treatment, which can be done by transrectal, transperineal and transurethral route.


2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Roland Biber ◽  
Johannes Pauser ◽  
Markus Geßlein ◽  
Hermann Josef Bail

MAGNEZIX® (Syntellix AG, Hanover, Germany) is a biodegradable magnesium-based alloy (MgYREZr) which is currently used to manufacture bioabsorbable compression screws. To date, there are very few studies reporting on a limited number of elective foot surgeries using this innovative implant. This case report describes the application of this screw for osteochondral fracture fixation at the humeral capitulum next to a loose radial head prosthesis, which was revised at the same time. The clinical course was uneventful. Degradation of the magnesium alloy did not interfere with fracture healing. Showing an excellent clinical result and free range-of-motion, the contour of the implant was still visible in a one-year follow-up.


Neurosurgery ◽  
1986 ◽  
Vol 18 (6) ◽  
pp. 795-797 ◽  
Author(s):  
William D. Tobler ◽  
Raymond Sawaya ◽  
John M. Tew

Abstract Metastatic lesions to the midbrain are rare. They are found in 1 to 3% of autopsy series of solitary brain metastases. The consensus of opinion in the current literature is that they are inoperable lesions and should be treated by radiation therapy alone. This is the first case report of a completely excised metastatic adenocarcinoma to the midbrain. The patient's clinical course has been stable, and there is no computed tomographic evidence of recurrence at 18 months follow-up. (18:795-797, 1986)


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