scholarly journals Four Cases of Perineal Groove—Experience of a Greek Maternity Hospital

Medicina ◽  
2019 ◽  
Vol 55 (8) ◽  
pp. 488 ◽  
Author(s):  
Theodora Boutsikou ◽  
Vasiliki Mougiou ◽  
Rozeta Sokou ◽  
Maria Kollia ◽  
George Kafalidis ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Mucous Membrane ◽  
Anorectal Malformations ◽  
Maternity Hospital ◽  
Live Births ◽  
Anal Orifice ◽  
High Incidence ◽  
Rare Malformation ◽  
Irritant Dermatitis ◽  
Defecation Disorders

Perineal groove is a well-defined clinical entity that belongs to a broader group of anorectal malformations. It is characterized by a non-epithelialized mucous membrane that appears as an erythematous sulcus in the perineal midline, extending from the posterior vaginal fourchette to the anterior anal orifice. The defect is gradually cicatrized, unless there are complications like infection, defecation disorders, trauma, and bleeding. The differential diagnosis includes several other conditions like trauma, infection, irritant dermatitis, lichen sclerosis, and ulcerated hemangioma. Since it is a rare malformation, it is often misdiagnosed and its presence often elicits unnecessary diagnostic workup and intervention. In this respect, neonatologists, dermatologists, or pediatric surgeons may under- or overestimate it. We report four cases of perineal groove out of 2250 live births at a Greek Maternity Hospital between September 2016 and April 2019. The “high” incidence of perineal groove cases in our Department allowed us to familiarize with this rare defect and minimize our clinical interventions.

scholarly journals Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Leonardo Bonini Fischetti ◽  
Julia Zaccarelli Magalhães ◽  
André Rinaldi Fukushima ◽  
Paula Waziry ◽  
Esther Lopes Ricci
Keyword(s):  
Systematic Review ◽  
Differential Diagnosis ◽  
Case Report ◽  
Animal Models ◽  
Case Reports ◽  
Accurate Diagnosis ◽  
Kabuki Syndrome ◽  
Live Births ◽  
Comparative Review ◽  
Secondary Phenotypes

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

scholarly journals Treatment of respiratory diseases with inhalation patches

2019 ◽  
pp. 89-94
Author(s):  
L S. Starostina
Keyword(s):  
Adverse Events ◽  
Respiratory Tract ◽  
Risk Reduction ◽  
Mucous Membrane ◽  
Respiratory Diseases ◽  
Respiratory Infections ◽  
Early Age ◽  
Ciliated Epithelium ◽  
Constant Attention ◽  
High Incidence

The high incidence of respiratory infections at an early age requires constant attention of doctors of various specialties. It should be born in mind that the development of the respiratory tract in young children has unique features, and that different drugs can have different effects on the mucous membrane and ciliated epithelium. Also take into account the possibility of using different ways drugs can be administered to prevent and treat respiratory infections with due account for the age of the child, the effectiveness of action and adverse events risk reduction.

scholarly journals Characterization of a Putative Founder Mutation that Accounts for the High Incidence of Cystinosis in Brittany

2001 ◽  
Vol 12 (10) ◽  
pp. 2170-2174
Author(s):  
VASILIKI KALATZIS ◽  
STÉPHANIE CHERQUI ◽  
GENEVIÈVE JEAN ◽  
BÉATRICE CORDIER ◽  
PIERRE COCHAT ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Founder Mutation ◽  
Pcr Amplification ◽  
Splice Site Mutation ◽  
Autosomal Recessive Disorder ◽  
Site Mutation ◽  
Live Births ◽  
Reverse Transcription Pcr ◽  
High Incidence

Abstract. Cystinosis is an autosomal recessive disorder, characterized by an accumulation of intralysosomal cystine, with an incidence of 1 in 100,000 to 200,000 live births. A higher incidence of cystinosis, 1 in 26,000 live births, has been reported in the western French province of Brittany. PCR amplification and sequencing has identified a 27-bp deletion starting 3 bp before the end of exon 8 and continuing into intron 8, 898-900+24del27, which has only been detected in families from this region. Reverse transcription—PCR amplification of RNA from an affected individual has shown that this mutation is indeed a splice-site mutation and results in the production of aberrant transcripts. These transcripts are predicted to either severely truncate cystinosin or alter its topology, thus accounting for the severe phenotype of these individuals. The mutation 898-900+24del27 has been identified in 7 of 18 alleles studied. This mutation is likely to be a founder mutation and would account for the higher incidence of cystinosis in Brittany.1

scholarly journals Tubular subtotal form of the small intestinal doublication

2020 ◽  
Vol 10 (1) ◽  
pp. 75-80
Author(s):  
Andrei V. Pisklakov ◽  
Denis A. Fedorov ◽  
Sergey V. Moroz ◽  
Vyacheslav I. Ponomarev ◽  
Anatoly V. Lysov ◽  
...  
Keyword(s):  
Gastric Mucosa ◽  
Mucous Membrane ◽  
Complete Removal ◽  
Proximal Part ◽  
Pancreatic Tissue ◽  
Intestinal Duplication ◽  
Common Wall ◽  
Rare Malformation ◽  
Small Intestinal ◽  
Mini Laparotomy

Duplication of the gastrointestinal tract is a relatively rare malformation. The incidence is approximately 1 in 10 000 live births with the small intestinal duplication in most cases. Malformations with a long duplication part are considered technically complex. A successfully treated clinical case of the subtotal small intestinal duplication in a child is presented in the article. The mid-median mini-laparotomy was performed and a subtotal 1 meter length small intestinal duplication was revealed (from the Treitzs ligament to the ileum in 50 cm from the ileocolic valve). The proximal part of the intestinal duplication and its mucous membrane of the distal part with the common wall were completely removed. Histological examination found ectopia of the gastric mucosa and pancreatic tissue. Surgical treatment of this malformation is aimed at the complete removal of the duplication part due to possible ectopia of the gastric mucosa or pancreatic tissue. If the resection of an entire part of the intestinal duplication is technically impossible, the mucous membrane can be removed.

scholarly journals Aplasia cutis congenita in a newborn

2021 ◽  
Vol 8 (11) ◽  
pp. 1887
Author(s):  
Sheela Madipelli
Keyword(s):  
Differential Diagnosis ◽  
Newborn Infant ◽  
Skin Lesions ◽  
Congenital Absence ◽  
Aplasia Cutis Congenita ◽  
Surgical Closure ◽  
Live Births ◽  
Common Location ◽  
Scalp Lesion ◽  
Aplasia Cutis

Aplasia cutis congenita (ACC) is a localized congenital absence of skin with a reported incidence of 3 per 10000 live births. Most common location is the scalp. The diagnosis is made clinically. The management of the lesion depends on the size and most of them are managed conservatively but larger lesions need surgical closure. Although aplasia cutis congenita is rare, it is very important for the general pediatrician to recognize this and consider it in the differential diagnosis of skin lesions specially the lesions on the scalp. We present a newborn infant with scalp lesion which was clinically diagnosed as aplasia cutis congenita and was managed conservatively.

DIFFERENTIAL DIAGNOSIS OF DISEASES OF THE MUCOSA OF THE ORAL CAVITY

2021 ◽  
Vol Special issue (2) ◽  
pp. 45-49
Author(s):  
Odinakhon Umarova ◽  
◽  
Mahpirathon Rasulova
Keyword(s):  
Differential Diagnosis ◽  
Oral Cavity ◽  
Mucous Membrane ◽  
Laboratory Tests ◽  
Correct Diagnosis ◽  
Laboratory Research ◽  
Pathological Changes ◽  
Oral Mucous Membrane ◽  
Diagnosis Of Diseases ◽  
Clinical Cases

Variants of pathological changes related to the group of white lesions: multiform erythema, flat lichen, candidiasis glossitis at the stage of formation of white foci. In this paper we consider the differential diagnosis of multiform erythema, planar lichen, candidiasis glossitis in the presence of signs of white plaque. Clarification of the diagnosis is based on a thorough examination and additional (including laboratory) research methods. Analysis of the results of observation of clinical cases of oral mucosa diseases to differentiate existing foci for correct diagnosis and subsequent treatment.The analysis of clinical cases of diseases of the oral mucous membrane indicates the similarity of their elements of destruction and manifestations of other symptoms, which greatly complicates the diagnostic search. A thorough survey, inspection, consultations of general specialists and additional laboratory tests allow to successfully solve the tasks

High Incidence of Clonal CD8+ T-cell Proliferation in Non-malignant Conditions May Reduce the Significance of T-cell Clonality Assay for Differential Diagnosis in Oncohematology

2020 ◽  
Vol 20 (4) ◽  
pp. 203-208 ◽  
Author(s):  
Yulia V. Sidorova ◽  
Kseniya A. Sychevskaya ◽  
Nataliya G. Chernova ◽  
Hunan L. Julhakyan ◽  
Svetlana Ju. Smirnova ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Differential Diagnosis ◽  
T Cell ◽  
Cd8 T Cell ◽  
T Cell Proliferation ◽  
High Incidence ◽  
T Cell Clonality ◽  
Cell Clonality

scholarly journals A Retrospective Audit of Clinically Significant Maternal Bacteraemia in a Specialist Maternity Hospital from 2001 to 2014

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Richard John Drew ◽  
Zara Fonseca-Kelly ◽  
Maeve Eogan
Keyword(s):  
Blood Culture ◽  
Positive Blood Culture ◽  
Maternal Blood ◽  
Maternity Hospital ◽  
E Coli ◽  
Live Births ◽  
Retrospective Audit ◽  
Group A ◽  
Clinically Significant ◽  
Group B

Maternal sepsis is a significant problem in obstetrics, with almost one in four maternal deaths related to severe sepsis. We carried out a retrospective review of clinically significant bacteraemia in obstetric patients attending Rotunda Hospital over 14 years. From 2001 to 2014, there were 252 clinically significant positive blood culture episodes in obstetric patients. There were 112,361 live births >500 g during the study period giving an overall rate of 2.24 clinically significant positive maternal blood culture episodes per 1000 live births >500 g. The median rate over the 14 years was 2.12 episodes per 1000 live births >500 g, with an interquartile range of 1.74–2.43 per 1000 live births >500 g. There was no discernable increasing or decreasing trend over the 14 years.E. coliwas the most commonly isolated organism (n= 92/252, 37%), followed by group BStreptococcus(n= 64/252, 25%),Staphylococcus aureus(n= 28/252, 11%), and anaerobes (n= 11/252, 4%). These top four organisms represented three-quarters of all positive blood culture episodes (n= 195/252, 77.3%). Of note, there were only five cases of listeriosis, representing a rate of 4.4 cases per 100,000 live births >500 g. The rate of invasive group A streptococcal infection was also very low at 5.3 cases per 100,000 live births >500 g.

scholarly journals A Congenital Anterior Urethrocutaneous Fistula in a Boy Whose Mother Was Exposed to Ionizing Radiations: Case Report and Literature Review

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
C. Spinelli ◽  
V. Pucci ◽  
C. Menchini ◽  
I. Buti ◽  
L. Fregoli ◽  
...  
Keyword(s):  
Case Report ◽  
Urinary Tract ◽  
Literature Review ◽  
Anorectal Malformations ◽  
Review Of The Literature ◽  
Urethrocutaneous Fistula ◽  
Nuclear Fallout ◽  
Rare Malformation ◽  
Ionizing Radiations

Anterior congenital urethrocutaneous fistula is a rare anomaly that may present in an isolated fashion or in association with other anomalies of the genital urinary tract or anorectal malformations. A case of congenital anterior urethrocutaneous fistula nonassociated with other congenital anomalies in a 3-year-old male whose mother has been exposed to Chernobyl's nuclear fallout is described. The patient was successfully operated with no recurrence. We report a review of the literature about etiology and surgical strategy including the role of ionizing radiations. The congenital anterior urethrocutaneous fistula represents a rare malformation. The etiopathogenesis is unknown.

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