scholarly journals Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)

2015 ◽  
Vol 18 (1) ◽  
pp. 110-114
Author(s):  
Roza Arturovna Atanesyan ◽  
Leonid Yakovlevich Klimov ◽  
Tatiana Michailovna Vdovina ◽  
Tatiana Alexeevna Uglova ◽  
Victoria Alexandrovna Kuryaninova ◽  
...  
Keyword(s):  
Clinical Case ◽  
Prenatal Screening ◽  
Medical Literature ◽  
Clinical Symptoms ◽  
Subcutaneous Fat ◽  
Disease Prevalence ◽  
Disease Course ◽  
Skin Hyperpigmentation ◽  
Development Delay

We present a case of a teenage boy with a Rabson-Mendenhall syndrome. There are only few recent publications on the topic of Rabson-Mendenhall syndrome in medical literature. This syndrome appears with a same frequency in both sexes. The disease prevalence is still unknown due to many undiagnosed cases linked with high mortality in early childhood. There are no prenatal screening for this disease till now, but it is clear, that in case of positive diagnostic tests, abortion should be recommended. The typical clinical symptoms of Rabson-Mendenhall syndrome are the following: physical development delay, loss of subcutaneous fat, teeth and nails abnormalities (premature teeth eruption, teeth number doubling, nails thickening). The earliest signs of the syndrome are skin hyperpigmentation and hyperkeratosis at neck, armpits and groin, which are typical for insulin resistance. Children with Rabson-Mendenhall syndrome usually have early manifestation of diabetes mellitus, characterized by labile disease course and frequent ketoacidosis state. The present clinical case might be interesting regarding a long follow-up of the child.

Demystifying Biclonal Gammopathy: A Pathologist’s Perspective

2019 ◽  
Vol 50 (4) ◽  
pp. 357-363 ◽  
Author(s):  
Sudha Sharma ◽  
Parikshaa Gupta ◽  
Ritu Aggarwal ◽  
Pankaj Malhotra ◽  
Ranjana Walker Minz ◽  
...  
Keyword(s):  
Medical Literature ◽  
Case Reports ◽  
Care Center ◽  
Tertiary Care ◽  
Protein Electrophoresis ◽  
Disease Course ◽  
Immunofixation Electrophoresis ◽  
Biclonal Gammopathy ◽  
Monoclonal Proteins

Abstract Background The production of 2 monoclonal proteins characterizes biclonal gammopathic manifestations (BGMs). The available medical literature from India is chiefly restricted to case reports. Objective To study the incidence of BGMs in a tertiary care center in Chandigarh, India, during a 4-year period. We evaluated these cases further for their laboratory characteristics. Methods We scrutinized the contents of a database containing information from the studied 4-year period. Cases reported as BGMs on serum protein electrophoresis (SPEP) and confirmed by serum immunofixation electrophoresis (SIFE) were included. Results A total of 15 cases, from a cohort of 914 cases of monoclonal gammopathic manifestations (MGMs), were available. On SPEP, 2 M bands were observed in 12 cases. On SIFE, 4 cases were reported as being of true BGMs. The most common heavy-chain combination observed was immunoglobulin (Ig)A-IgG. Follow-up was available in 2 patients. Conclusion Identification of BGMs increases diagnostic precision, despite that the treatment is similar to that for monoclonal gammopathic manifestations (MGMs). BGMs can be transitory and may be observed at presentation or during the disease course.

scholarly journals Incomplete Wolfram syndrome. Clinical case report

2019 ◽  
Vol 65 (1) ◽  
pp. 46-49
Author(s):  
Oleg A. Dianov ◽  
Ekaterina A. Lavrova ◽  
Vadim V. Maltcev ◽  
Darina A. Oleynik
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Wolfram Syndrome ◽  
Sensorineural Hearing ◽  
First Year ◽  
Disease Manifestation

We describe clinical presentation of Wolfram syndrome and follow-up data in a child. Diagnostics of Wolfram syndrome takes time because clinical symptoms develop not at the time of disease manifestation, but usually several years later. The sequence of manifestations also varies. According to the literature, sensorineural hearing loss occurs in the 2nd decade, and bladder atony develops only by the 3rd decade. In the presented case, initial manifestations of bladder innervation disorders in the form of its dysfunction developed as early as the first year, and sensorineural hearing loss formed by the 4th year of the disease. As in other studies, the patient developed optic disc atrophy within the first year after diabetes onset. This clinical case confirms variability in the clinical symptoms of Wolfram syndrome. The sequence in which the disease picture develops (in this case, there was an incomplete form of syndrome the absence of diabetes insipidus) does not always coincide with the classic course of syndrome, which complicates timely diagnosis.

scholarly journals Acute inflammatory demyelinating pseudotumor after COVID-19

2021 ◽  
Vol 13 (1S) ◽  
pp. 57-61
Author(s):  
T. I. Yakushina ◽  
D. M. Yakushin ◽  
I. O. Shtang
Keyword(s):  
Clinical Case ◽  
Clinical Symptoms ◽  
Acute Disseminated Encephalomyelitis ◽  
Active Process ◽  
Resonance Imaging ◽  
Left Frontal Lobe ◽  
Magnetic Resonance Imaging Mri ◽  
Single Focus ◽  
Multiple Sclerosis Onset

The presence of a single demyelinating focus with signs of the blood-brain barrier (BBB) disruption, revealed during magnetic resonance imaging (MRI), in the absence of clinical symptoms, is most often an accidental finding and requires careful follow-up and anamnesis clarification for diagnosis. Such a focus can be a sign of multiple sclerosis onset, be a symptom of acute disseminated encephalomyelitis, inflammatory demyelinating pseudotumor, brain tumor, encephalitis, etc. Difficulties of differential diagnosis in a radiologically isolated syndrome are reflected in the presented clinical case of a 26-year-old woman who had recovered from COVID-19, in whom an MRI revealed a large single focus in the left frontal lobe with signs of active process.

Post-Procedure CT Follow-up after Percutaneous Automated Lumbar Nucleotomy

1996 ◽  
Vol 2 (4) ◽  
pp. 283-286 ◽  
Author(s):  
R. Dullerud ◽  
J.G. Johansen
Keyword(s):  
Cohort Study ◽  
Clinical Symptoms ◽  
Subcutaneous Fat ◽  
Psoas Muscle ◽  
Ct Scans ◽  
Complication Rates ◽  
Post Procedure ◽  
Tissue Changes ◽  
Soft Tissue Changes

In order to evaluate the incidence of soft tissue changes after automated lumbar nucleotomy, a prospective cohort study was performed with follow-up CT within four to six hours after treatment of 97 discs in 88 patients. The CT scans were normal at 47 levels and abnormal at 50. At 11 levels traces of blood were seen along the trajectory, of which nine were located in the subcutaneous fat, one in the extensor and one in the psoas muscle. Small gas collections were observed at 42 levels. Twenty-one of them were located in the extensor and two in the psoas muscle, seven in the subcutaneous fat, two in the epidural space and ten in multiple locations. The abnormal scans were not associated with clinical symptoms different from those with normal scans. The results support previous reports indicating that this procedure is associated with low morbidity and complication rates.

scholarly journals Vidinės miego arterijos kilpos ir linkiai. Cerebrovaskulinė liga

2010 ◽  
Vol 8 (2) ◽  
pp. 0-0
Author(s):  
Irena Bičkutė ◽  
Kęstutis Laurikėnas
Keyword(s):  
Surgical Treatment ◽  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Clinical Case ◽  
Internal Carotid ◽  
Clinical Symptoms ◽  
District Hospital ◽  
Double Loop ◽  
Cerebrovascular Insufficiency

Irena Bičkutė1, Kęstutis Laurikėnas21Švenčionių rajono ligoninė,Partizanų g. 4, LT-18126 Švenčionys2Vilniaus universitetinė greitosios pagalbos ligoninė,Šiltnamių g. 29, LT-04130 VilniusEl paštas: [email protected] Smegenų išemijos ir vidinės miego arterijos linkio ryšys pirmą kartą literatūroje paminėtas 1951 metais. Tačiau iki šiol nėra iki galo aiški smegenų kraujotakos sutrikimų priežastis. Nagrinėtos galimos jos teorijos. Straipsnyje pateikiamas vidinės miego arterijos dvigubos kilpos ir pasikartojančios hemiparezės klinikinis atvejis. Po kilpos rezekcijos ligonis stebėtas trejus metus. Hemiparezė nesikartojo. Reikšminiai žodžiai: vidinė miego arterija, linkiai ir kilpos, chirurginis gydymas Internal carotid artery loops and kinks. cerebrovascular disease Irena Bičkutė1, Kęstutis Laurikėnas21Švenčionys District Hospital,Partizanų Str. 4, LT-18126 Švenčionys, Lithuania2Vilnius University Emergency Hospital,Šiltnamių Str. 29, LT-04130 Vilnius, LithuaniaE-mail: [email protected] In 1951, a relation between internal carotid artery tortuosity and cerebral ischaemia was first mentioned. Until now, the cause of cerebrovascular insufficiency is not clear enough. Probable theories of dyscirculation were discussed. A clinical case of internal carotid artery double loop related to repeated hemiparesis is presented. The three-year follow-up after loop resection did not show any clinical symptoms. Key words: internal carotid artery, kinks and loops, surgical treatment

scholarly journals Clinicobiochemical correlations in patients with the predominance of high-molecular prolactin in the blood serum

1995 ◽  
Vol 41 (1) ◽  
pp. 19-22
Author(s):  
Ye. Ye. Makarovskaya ◽  
I. A. Ilovaiskaya ◽  
A. V. Martynov ◽  
Ye. I. Marova ◽  
G. A. Melnichenko ◽  
...  
Keyword(s):  
Blood Serum ◽  
Molecular Mass ◽  
Clinical Picture ◽  
Clinical Symptoms ◽  
Disease Course ◽  
Typical Symptom ◽  
Blood Disease ◽  
Symptom Complex ◽  
Large Groups

A new rapid method for assesment of the ratio of immunoreactive prolactin forms with high and low molecular mass has been developed, which permits screening of large groups of patients. It was used in examinations of 44 women with hyperprolactinemea of various origin and with normoprolactinemic galactorrhea. High-molecular immunoreactive prolactin predominated in the blood serum of 25% of patients. This predominance did not depend on the origin of hyperprolactinemia, clinical picture of the disease, or level of total immunoreactive prolactin in the blood. Heterogenous clinical symptoms of the disease were characteristic of these patients: a typical symptom complex was absent in moderate hyperprolactinemia, whereas in patients with manifest hyperprolactinemia of a tumorous origin a classical clinical picture of persistent galactorrhea-amenorrhea was observed. A follow-up showed the predominance of high-molecular prolactin irrespective of the changes in the level of total immunoreactive prolactin in the blood, disease course, onset of pregnancy and labor.

scholarly journals On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Snezhina Mihailova Kandilarova ◽  
Spaska Stoyneva Lesichkova ◽  
Nevena Todorova Gesheva ◽  
Petya Stefanova Yankova ◽  
Nedelcho Hristov Ivanov ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Clinical Course ◽  
Dna Binding Domain ◽  
Disease Course ◽  
Immunological Parameters ◽  
Laboratory Findings ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare disease described in 1966. It is characterized by severe dermatitis, a peculiar face, frequent infections, extremely high levels of serum IgE and eosinophilia, all resulting from a defect in the STAT3 gene. A variety of mutations in the SH2 and DNA-binding domain have been described, and several studies have searched for associations between the severity of the clinical symptoms, laboratory findings, and the type of genetic alteration. We present two children with AD-HIES–a girl with the most common STAT3 mutation (R382W) and a boy with a rare variant (G617E) in the same gene, previously reported in only one other patient. Herein, we discuss the clinical and immunological findings in our patients, focusing on their importance on disease course and management.

scholarly journals Rare clinical case of esophageal atresia in a newborn

2020 ◽  
Vol 64 (6) ◽  
pp. 106-109
Author(s):  
V. I. Morozov ◽  
A. A. Podshivalin ◽  
G. E. Chigvinsev ◽  
M. A. Zykova ◽  
L. I. Batyrshina ◽  
...  
Keyword(s):  
Esophageal Atresia ◽  
Clinical Case ◽  
Diagnostic Method ◽  
Sick Child ◽  
Medical Literature ◽  
Clinical Symptoms ◽  
Diagnosis And Treatment ◽  
Medical Practitioners ◽  
History Of

Esophageal atresia is a malformation in which the upper and lower segments of the esophagus are separated. In this case, one or both segments may have a connection with the trachea.Purpose: to familiarize medical practitioners with a rare clinical case of esophageal atresia. The clinical variant of esophageal atresia presented in the publication has not yet been described in the medical literature; according to the clinical characteristics, it is most consistent with type 3B according to the classification of E. Vogt. Diagnosis and treatment of this malformation is carried out according to the previously developed standard protocol for diagnosis and treatment. The key diagnostic method is thoracoscopy, in many cases the malformation is detected intraoperatively (the main diagnostic method).The history of a sick child, a characteristic of clinical symptoms, data of paraclinical research methods, methods and favorable treatment results are provided.

Does Hospitalization Predict the Disease Course in Ulcerative Colitis? Prevalence and Predictors of Hospitalization and Re- Hospitalization in Ulcerative Colitis in a Population-based Inception Cohort (2000-2012)

2015 ◽  
Vol 24 (3) ◽  
pp. 287-292 ◽  
Author(s):  
Petra A. Golovics ◽  
Laszlo Lakatos ◽  
Michael D. Mandel ◽  
Barbara D. Lovasz ◽  
Zsuzsanna Vegh ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Cox Regression ◽  
Diagnostic Procedures ◽  
Population Based ◽  
Disease Course ◽  
Inception Cohort ◽  
Disease Extent ◽  
Cox Regression Analysis ◽  
Hospitalization Rates

Background & Aims: Limited data are available on the hospitalization rates in population-based studies. Since this is a very important outcome measure, the aim of this study was to analyze prospectively if early hospitalization is associated with the later disease course as well as to determine the prevalence and predictors of hospitalization and re-hospitalization in the population-based ulcerative colitis (UC) inception cohort in the Veszprem province database between 2000 and 2012. Methods: Data of 347 incident UC patients diagnosed between January 1, 2000 and December 31, 2010 were analyzed (M/F: 200/147, median age at diagnosis: 36, IQR: 26-50 years, follow-up duration: 7, IQR 4-10 years). Both in- and outpatient records were collected and comprehensively reviewed. Results: Probabilities of first UC-related hospitalization were 28.6%, 53.7% and 66.2% and of first re-hospitalization were 23.7%, 55.8% and 74.6% after 1-, 5- and 10- years of follow-up, respectively. Main UC-related causes for first hospitalization were diagnostic procedures (26.7%), disease activity (22.4%) or UC-related surgery (4.8%), but a significant percentage was unrelated to IBD (44.8%). In Kaplan-Meier and Cox-regression analysis disease extent at diagnosis (HR extensive: 1.79, p=0.02) or at last follow-up (HR: 1.56, p=0.001), need for steroids (HR: 1.98, p<0.001), azathioprine (HR: 1.55, p=0.038) and anti-TNF (HR: 2.28, p<0.001) were associated with the risk of UC-related hospitalization. Early hospitalization was not associated with a specific disease phenotype or outcome; however, 46.2% of all colectomies were performed in the year of diagnosis. Conclusion: Hospitalization and re-hospitalization rates were relatively high in this population-based UC cohort. Early hospitalization was not predictive for the later disease course.

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