Congenital cholestatic diseases in children of early age: step-by-step differential diagnosis

2019 ◽  
Vol 14 (5) ◽  
pp. 26-33
Author(s):  
G.V. Volynets ◽  
◽  
A.I. Khavkin ◽  
A.V. Nikitin ◽  
T.A. Skvortsova ◽  
...  
2018 ◽  
Vol 68 ◽  
pp. S625
Author(s):  
G. Volynets ◽  
A. Khavkin ◽  
A. Nikitin ◽  
T. Skvortsova ◽  
O. Komarova ◽  
...  

2010 ◽  
Vol 9 (1) ◽  
pp. 58-62 ◽  
Author(s):  
Mehmet Buyukberber ◽  
Irfan Koruk ◽  
Oztekin Cýkman ◽  
Mehmet Koruk ◽  
Mehmet Emin Küçükoglu ◽  
...  

2020 ◽  
Vol 13 (8) ◽  
pp. e235374 ◽  
Author(s):  
Garima Yadav ◽  
Neha Agrawal ◽  
Sureka Binit ◽  
Pratibha Singh

Transverse vaginal septum is one of the variants of Mullerian duct anomaly, caused as a result of defective fusion or recanalisation of vaginal and Mullerian organs. At an early age, it commonly presents as primary amenorrhea along with cyclical abdominal pain while later on usually it presents as dyspareunia and infertility. Our 22-year-old patient presented with secondary amenorrhea. It is very unusual for a transverse vaginal septum to cause secondary amenorrhea. MRI and clinical examination raised the suspicion of transverse vaginal septum causing secondary amenorrhea. She attained regular menstrual cycle after septum excision. The proposed theory behind it is obliteration of microperforated transverse vaginal septum because of menstrual blood and cell debris. Thus, a rare possibility of transverse vaginal septum should also be considered as a differential diagnosis of secondary amenorrhea.


2009 ◽  
Vol 3 (2) ◽  
pp. 81-87
Author(s):  
Paolo Ghiringhelli

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI). Patients with Lynch syndrome have a markedly increased risk of colorectal cancer. We report a case of a 28-year-old male with Lynch syndrome; the case allows to describe clinical manifestations and diagnostic criteria of this syndrome, and to underline the importance of genetics in the diagnosis of this disease.


Author(s):  
Liang S ◽  
◽  
Zheng Y ◽  
Shen Z ◽  
Li L ◽  
...  

Lymphadenoma of the salivary gland is a rare form of tumor that can be branched into Sebaceous Lymphadenoma (SLA) and Non-Sebaceous Lymphadenoma (NSLA). It is painless, hyperdense, shiny yellowish/brownish unicystic or multicystic mass which is encapsulated and well defined having lymphocytic and/or lymphoid follicles background present with or without sebaceous differentiation. Both SLA and NSLA are predominantly located in parotids with occasional case appearing in minor salivary glands and has <100 and <50 reported cases respectively in English literature. We have attempted to compile reported case studies on SLA and NSLA and tried to make analysis on the basis of findings. Our analysis revealed that both SLA and NSLA are often non-malignant in nature but feature of malignancy cannot be completely ruled out. Data also found that SLA and NSLA has a significant gender bias towards males but NSLA is more likely to appear at an early age as compared to SLA which often emerge after the 5th decade of life. Further, differential diagnosis should be considered to distinguish SLA and NSLA from Warthin’s tumor, pleomorphic adenoma, mucoepidermoid carcinoma, cystadenoma, lymphoepithelial cysts, myoepithelial sialadenitis, malignant lymphoma and metastatic adenocarcinoma of lymph node. This review discusses various techniques used in the past studies that can be helpful in making differential diagnosis.


2001 ◽  
Vol 7 (4) ◽  
pp. 310-318 ◽  
Author(s):  
Michael Fitzgerald ◽  
Aiden Corvin

Asperger syndrome is an uncommon condition, but probably more common than classic autism (the only published population study estimated prevalence at 36 per 10 000 children for Asperger syndrome and 5 per 10 000 for autism (Ehlers & Gillberg, 1993)). Misdiagnosis or delayed diagnosis of this disorder is a serious problem, and the average age at diagnosis is several years later than for autism (Gillberg, 1989). Obviously, this can be traumatic for individuals and families; furthermore, the most effective intervention programmes begin early, and establishing management strategies at an early age can minimise later behavioural problems (Howlin, 1998).


Author(s):  
Bruce Mackay

The broadest application of transmission electron microscopy (EM) in diagnostic medicine is the identification of tumors that cannot be classified by routine light microscopy. EM is useful in the evaluation of approximately 10% of human neoplasms, but the extent of its contribution varies considerably. It may provide a specific diagnosis that can not be reached by other means, but in contrast, the information obtained from ultrastructural study of some 10% of tumors does not significantly add to that available from light microscopy. Most cases fall somewhere between these two extremes: EM may correct a light microscopic diagnosis, or serve to narrow a differential diagnosis by excluding some of the possibilities considered by light microscopy. It is particularly important to correlate the EM findings with data from light microscopy, clinical examination, and other diagnostic procedures.


2011 ◽  
Vol 21 (2) ◽  
pp. 59-62
Author(s):  
Joseph Donaher ◽  
Christina Deery ◽  
Sarah Vogel

Healthcare professionals require a thorough understanding of stuttering since they frequently play an important role in the identification and differential diagnosis of stuttering for preschool children. This paper introduces The Preschool Stuttering Screen for Healthcare Professionals (PSSHP) which highlights risk factors identified in the literature as being associated with persistent stuttering. By integrating the results of the checklist with a child’s developmental profile, healthcare professionals can make better-informed, evidence-based decisions for their patients.


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