scholarly journals Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection

Breast Care ◽  
2017 ◽  
Vol 12 (5) ◽  
pp. 340-343 ◽  
Author(s):  
Tian Meng ◽  
Ming Bai ◽  
Ru Zhao
Keyword(s):  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Reproductive Tract ◽  
Subcutaneous Tissue ◽  
Left Breast ◽  
Severe Form ◽  
Poland Syndrome ◽  
Pectoralis Muscles ◽  
Ovarian Agenesis ◽  
Unclear Etiology

Background: Poland syndrome and Müllerian duct agenesis (Mayer-Rokitansky-Küster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. Case Report: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome. Conclusion: It is plausible to assume that these two congenital anomalies which arose from distant sites may be interrelated. More cases and further studies will certainly help delineate the pathogenesis of these syndromes.

scholarly journals Spectrum of Neonatal Surgical Problems in the Newborn: Incidence, Clinical Course, Immediate Outcome, Follow up Study in a Tertiary Care NICU

2019 ◽  
pp. 1-9
Author(s):  
K. G. Sachin ◽  
K. R. Sachin ◽  
H. Ramesh ◽  
Guru Prasad ◽  
Harsha Bullapur
Keyword(s):  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Population Control ◽  
Tertiary Care ◽  
Relevant Information ◽  
The United States ◽  
Physical Structure ◽  
Neonatal Deaths ◽  
Medical College

Background: A congenital anomaly may be defined in terms of physical structure as a malformation, an abnormality of physical structure or form usually found at birth or during the first few weeks of life. Congenital anomalies affect approximately 1 in 33 infants and result in approximately 3.2 million birth defect-related disabilities every year. Congenital anomalies or birth defects are relatively common, affecting 3% to 5% of live births in the United States (US) and 2.1% in Europe. Congenital anomalies account for 8% to 15% of perinatal deaths and 13% to 16% of neonatal deaths in India. Objectives: To provide an insight on the burden and types of surgical problems encountered in our NICU of Bapuji Child Health Institute & Research Center, JJM Medical College, Davangere, Karnataka, India and to study the incidence, clinical profile and outcome of surgical condition. Methodology: A total of 3820 babies were examined over a period of 2 years. The relevant information was documented on a semi-structured proforma and analysed. Results: Overall incidence of congenital malformations at birth was 24.8 per 1000 births. The GIT system (51.58%) was most commonly involved followed by respiratory system (26.32%). The incidence of congenital malformation was more in male babies than female babies. Increased frequency was seen in babies born to mothers between 26–30 years & primigravida. The factors which significantly increased the rate of congenital malformations were consanguinity in parents & bad obstetric history. Out of 95 cases, 72% got discharged normally, 18% died in NICU and 10% got discharged against medical advise. Conclusion: With emphasis on “small family” norms and population control it is necessary to identify malformations so that interventional programmes can be planned. Systematic clinical examination of newborns for early detection of anomalies that may warrant medical or surgical intervention. Accurate antenatal anomaly scan need to be done to identify major malformations and terminate the pregnancy.

scholarly journals Animal Models of Zika Virus Infection, Pathogenesis, and Immunity

2017 ◽  
Vol 91 (8) ◽  
Author(s):  
Thomas E. Morrison ◽  
Michael S. Diamond
Keyword(s):  
Animal Models ◽  
Virus Infection ◽  
Zika Virus ◽  
Congenital Malformations ◽  
Scientific Community ◽  
Reproductive Tract ◽  
Sexual Transmission ◽  
Rapid Testing ◽  
Zikv Infection ◽  
Male Reproductive Tract

ABSTRACT Zika virus (ZIKV) is an emerging mosquito-transmitted flavivirus that now causes epidemics affecting millions of people on multiple continents. The virus has received global attention because of some of its unusual epidemiological and clinical features, including persistent infection in the male reproductive tract and sexual transmission, an ability to cross the placenta during pregnancy and infect the developing fetus to cause congenital malformations, and its association with Guillain-Barré syndrome in adults. This past year has witnessed an intensive effort by the global scientific community to understand the biology of ZIKV and to develop pathogenesis models for the rapid testing of possible countermeasures. Here, we review the recent advances in and utility and limitations of newly developed mouse and nonhuman primate models of ZIKV infection and pathogenesis.

scholarly journals Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

2020 ◽  
Vol 51 (05) ◽  
pp. 359-363 ◽  
Author(s):  
Carmela R. Massimino ◽  
Pierluigi Smilari ◽  
Filippo Greco ◽  
Silvia Marino ◽  
Davide Vecchio ◽  
...  
Keyword(s):  
Central Nervous System ◽  
De Novo ◽  
Subcutaneous Tissue ◽  
Poland Syndrome ◽  
Pectoralis Muscle ◽  
Neurodevelopmental Delay ◽  
Hand Anomalies ◽  
Ectopic Neurohypophysis ◽  
Congenital Syndrome ◽  
Central Nervous System Malformation

AbstractPoland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

scholarly journals Lung Cancer with Skin and Breast Metastasis: A Case Report and Literature Review

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Bikash Bhattarai ◽  
Marie Frances Schmidt ◽  
Meenakshi Ghosh ◽  
Abhisekh Sinha Ray ◽  
Saveena Manhas ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Case Report ◽  
Primary Lung Cancer ◽  
Radical Mastectomy ◽  
Left Breast ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Patients At Risk ◽  
Poorly Differentiated ◽  
Unclear Etiology

Lung cancer is one of the most common cancers in America. Frequent sites of metastasis include the Hilar lymph nodes, adrenal glands, liver, brain, and bone. The following case report is of a primary lung cancer with metastases to the breast and skin.Case. A 48-year-old African American male with a past medical history of poorly differentiated left breast cancer status after modified radical mastectomy (MRM), chronic obstructive pulmonary disease, and smoking (20 pack-years) presents to the ER with progressive shortness of breath on exertion, upper back pain, and weight loss for 2 months in duration. On physical examination he is found to have a MRM scar on his left breast and a left periumbilical cutaneous mass. Chest X-ray and chest CT reveal a right upper lobe mass and biopsies from the breast, lung, and the periumbilical mass indicate a poorly differentiated carcinoma of unclear etiology; all tumor markers are negative. The patient is male and a chronic smoker; therefore the diagnosis is made as lung carcinoma with metastases to the breast and skin.Conclusion. A high index of suspicion for cutaneous metastases should be cast when investigating cutaneous pathologies in patients at risk for primary lung malignancy.

scholarly journals Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract

2017 ◽  
Vol 29 (1) ◽  
pp. 36-50 ◽  
Author(s):  
Amelie T. van der Ven ◽  
Asaf Vivante ◽  
Friedhelm Hildebrandt
Keyword(s):  
Urinary Tract ◽  
Vesicoureteral Reflux ◽  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Renal Agenesis ◽  
Incomplete Penetrance ◽  
Variable Expressivity ◽  
Genetic Causes ◽  
Shed Light ◽  
Lines Of Evidence

Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%–20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans.

Prevalence and Forms of Congenital Anomalies in Twins Born in Pomeranian District During the Period from 1.07.1997 to 31.12.1998

1998 ◽  
Vol 47 (3-4) ◽  
pp. 255-259 ◽  
Author(s):  
T. Zimoń ◽  
M. Walczak ◽  
J. Fydryk ◽  
A. Materna-Kiryluk ◽  
J. Mejnar-towicz ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Prevalence Rate ◽  
Congenital Malformations ◽  
Multiple Pregnancy ◽  
Multiple Pregnancies ◽  
Singleton Pregnancy

AbstractThe authors have analysed the frequency and structure of congenital anomalies in children born in the Pomeranian district in the period from 01.07.1997 to 31.12.1998. Among a total of 28.361 births in that area, 748 (2.64%) were affected by congenital anomalies. Among 28.361 births, 620 (2.18%) were from multiple pregnancies. 23 (3.71%) among births from multiple pregnancies were affected by congenital malformations. The prevalence rate of inborn anomalies in births from multiple pregnancy in our area were higher (3.71%) in comparison to births from singleton pregnancy (2.61%). It implies that children born from multiple pregnancy are at higher risk of developing congenital anomalies.

Congenital Anomalies in Twins in Aberdeen and Northeast Scotland

1983 ◽  
Vol 32 (1) ◽  
pp. 31-35 ◽  
Author(s):  
G. Corney ◽  
I. MacGillivray ◽  
D.M. Campbell ◽  
B. Thompson ◽  
J. Little
Keyword(s):  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Statistical Significance ◽  
Mz Twins

Data with regard to the proportion of congenital malformations found at birth are presented from a survey of 657 pairs of twins of known zygosity and placentation delivered in Aberdeen and Northeast Scotland between 1968 and 1979. There was an excess of malformed individuals from monozygotic (MZ) pairs, but this did not reach statistical significance. The possible effect of monochorionic placentation in the causation of malformations in MZ twins in general is discussed. It seems that this type of placentation may be of less causative importance than has been previously suggested.

scholarly journals Association of other congenital anomalies in children with cleft lip and palate: a prospective hospital based observational study

2019 ◽  
Vol 6 (3) ◽  
pp. 1059
Author(s):  
Padmasani Venkat Ramanan ◽  
Rajesh Balan ◽  
Jyotsna Murthy ◽  
Syed Altaf Hussain
Keyword(s):  
Congenital Anomaly ◽  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Associated Anomalies ◽  
Live Births ◽  
Associated Malformations ◽  
Syndrome Association

Background: Cleft lip and palate is a common congenital anomaly affecting approximately 1 in 700 live births in south Asia. It is often associated with syndromes and other malformations but the exact incidence of these in Asians is not known. The present study was carried out to determine the association of other congenital anomalies in children with cleft.Methods: The study was carried out in the patients attending the Cleft centre of our Hospital. They were examined for other major external congenital malformations and syndrome association.  Where ever relevant, appropriate investigations were done.Results: Of the total of 2367 children examined, 262 (11.06%) had congenital malformations.  Among the non-syndromic children, 9% had associated malformations.  The commonest was congenital heart disease (1.4%) following by genitourinary and skeletal anomalies.  The highest number of anomalies was seen in patients with cleft palate alone (24.89%). 1.4% patients had identifiable syndromes.Conclusions: The study emphasizes the need for a thorough examination of all children with cleft.  The overall lower incidence of syndromic clefts and associated anomalies in present study suggests that other etiological factors may be involved in our country.

scholarly journals Gastric and esophageal duplications in children

2020 ◽  
Vol 15 (4) ◽  
pp. 110-113
Author(s):  
M.A. Aksel'rov ◽  
◽  
V.N. Evdokimov ◽  
V.V. Svazyan ◽  
T.V. Sergienko ◽  
...  
Keyword(s):  
Small Intestine ◽  
Case Report ◽  
Gastrointestinal Tract ◽  
Anal Canal ◽  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Clinical Manifestations ◽  
Clear Understanding ◽  
Gastric Duplication ◽  
Esophageal Duplication

Considerable attention is currently being paid to the diagnosis and treatment of gastric malformations complicated by its obstruction. This can be attributed to stable incidence of these disorders among other congenital anomalies of the gastrointestinal tract and no clear understanding of the causes and mechanisms underlying the development of this pathology. Gastrointestinal duplications are rare congenital malformations that differ significantly in their appearance, location, size, and clinical manifestations. Their incidence is 1 case per 4,500 autopsies. Duplications can be cystic and diverticular (tubular) and can be located in any part of the gastrointestinal tract from the root of the tongue to the anal canal. The small intestine is affected most frequently, while duplications of the rectum, duodenum, and esophagus are exceedingly rare. In this article, we report two cases of gastrointestinal duplications in children treated using surgery. Key words: neonate, obstruction, developmental malformations, gastric duplication, esophageal duplication, case report

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