Organ Malformations Research Articles

Sirenomelia: The role of post - Mortem diagnostic imaging

Sirenomelia, also known as “mermaid syndrome” is a rare lethal condition characterized by a single midline limb, variable lower spinal column defects and visceral abnormalities. We present a case of sirenomelia diagnosed during the 34th week of gestation. A pregnant 30 years-old woman at 34th week of gestation was referred to the Department of Gynecology and Obstetrics of the Università della Campania “Luigi Vanvitelli” (Italy), with a suspect of intrauterine fetal death; confirmed by Ultrasonography (US) which also detected the presence of severe oligo-hydramnios and complex fetal polymalformations. The mother delivered a death-baby weighing 1.7 kgs. External examination showed a single lower limb, which ended with a malrotated and almost totally fused foot with nine toes. Post-mortem X-ray and Computed Tomography (CT) examinations of the baby revealed the presence of a single midline fibula and a sacro-coccigeal malformation with fusion of the isk bones. Two independent right and left femurs and tibias were present. Sirenomelia is a multisystemic human malformation without explicit etiology and generally not compatible with the normal life. Intrauterine diagnosis of sirenomelia may be difficult in the second or third trimester, because of the concomitant severe oligohydramnios. The early diagnosis of this lethal malformation during suitable gestation week is fundamental to the treatment plan and termination of pregnancy. The use of CT and MRI-virtual autopsy are useful to replace conventional autopsy, and for the evaluation of the malformations of the internal organs, for the prevention of future family pathologies.

Ethylene glycol butyl ether deteriorates oocyte quality via impairing mitochondrial function.

Ethylene glycol butyl ether (EGBE) is a ubiquitous environmental pollutant that is commonly used in maquillage, industrial, and household products. EGBE has been shown to cause blood toxicity, carcinogenicity, and organ malformations. However, little is known about the impact of EGBE on the female reproductive system, especially oocyte quality. Here, we reported that EGBE influenced oocyte quality by showing the disturbed oocyte meiotic capacity, fertilization potential, and early embryonic development competency. Specifically, EGBE exposure impaired spindle/chromosome structure, microtubule stability, and actin polymerization to result in the oocyte maturation arrest and aneuploidy. In addition, EGBE exposure compromised the dynamics of cortical granules and their component ovastacin, leading to the failure of sperm binding and fertilization. Last, single-cell transcriptome analysis revealed that EGBE-induced oocyte deterioration was caused by mitochondrial dysfunction, which led to the accumulation of ROS and occurrence of apoptosis. Altogether, our study illustrates that mitochondrial dysfunction and redox perturbation is the major cause of the poor quality of oocytes exposed to EGBE.

Clinical Course In Upper Gastrointestinal Patients With Connective Tissue Dysplasia Syndrome

Connective tissue dysplasias (CTDs) are genetically determined conditions characterised by defects in fibrous structures and connective tissue basic substance, leading to organ and system malformations, having a progressive course, defining features of associated pathology, as well as pharmacokinetics and pharmacodynamics of drugs.

Applications of MOFs as Luminescent Sensors for Environmental Pollutants.

The environmental pollution has become a serious issue because the pollutants can cause permanent damage to the DNA, nervous system, and circulating system, resulting in various incurable diseases, such as organ failure, malformation, angiocardiopathy, and cancer. The effective detection of environmental pollutants is urgently needed to keep them far away from daily life. Among the reported pollutant sensors, luminescent metal-organic frameworks (LMOFs) with tunable structures have attracted remarkable attention to detect the pollutants because of their excellent selectivity, sensitivity, and recyclability. Although lots of metal-organic framework (MOF)-based luminescent sensors have been summarized and discussed in previous reviews, the detection of environmental pollutants, especially radioactive ions and heavy metal ions, still have not been systematically presented. Here, the sensing mechanisms and construction principles of luminescent MOFs are discussed, and the state-of-the-art MOF-based luminescent sensors of environmental pollutants, including pesticides, antibiotics, explosives, VOCs, toxic gas, toxic small molecules, radioactive ions, and heavy metal ions are highlighted. This comprehensive review may further guide the development of luminescent MOFs and promote their practical applications for sensing environmental pollutants.

Planar cell polarity pathway in kidney development, function and disease.

Planar cell polarity (PCP) refers to the coordinated orientation of cells in the tissue plane. Originally discovered and studied in Drosophila melanogaster, PCP is now widely recognized in vertebrates, where it is implicated in organogenesis. Specific sets of PCP genes have been identified. The proteins encoded by these genes become asymmetrically distributed to opposite sides of cells within a tissue plane and guide many processes that include changes in cell shape and polarity, collective cell movements or the uniform distribution of cell appendages. A unifying characteristic of these processes is that they often involve rearrangement of actomyosin. Mutations in PCP genes can cause malformations in organs of many animals, including humans. In the past decade, strong evidence has accumulated for a role of the PCP pathway in kidney development including outgrowth and branching morphogenesis of ureteric bud and podocyte development. Defective PCP signalling has been implicated in the pathogenesis of developmental kidney disorders of the congenital anomalies of the kidney and urinary tract spectrum. Understanding the origins, molecular constituents and cellular targets of PCP provides insights into the involvement of PCP molecules in normal kidney development and how dysfunction of PCP components may lead to kidney disease.

Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort

BackgroundThis study aimed to retrospectively analyze the correlation between congenital abnormality of the urogenital system and various factors in children with neural tube defects (NTDs).MethodsA total of 190 children with congenital NTDs, who were admitted to a hospital from May 2013 to May 2018, were included into the present study. All admitted children with congenital NTDs were carried out routine abdominal B-ultrasound examinations to determine the malformations of the abdominal organs, including the urinary system. Children with a B-ultrasound result of suspected and unsure malformation underwent intravenous pyelography (IVP) and voiding cysto-urethrography (VCU), and this was further confirmed by the CT results.ResultsThe incidence of urogenital malformation was 12.1% (23/190) in children with congenital NTDs. For the 23 children with urogenital malformations, most of these children had no definite urinary system symptoms, while some of these children had multiple incidences of urinary system infections.ConclusionsCongenital NTDs are often combined with urogenital malformations, if not specifically searched these may be overlooked. The early detection of these malformations is beneficial to reduce the risk of operation and improve the prognosis.

Epidemiology and clinical features of congenital malformations of uri-nary system organs in conditions of environmental distress

Objective. To establish the features of epidemiology and clinical manifestations of congenital malformations of the urinary system in the zone of environmental distress.
 Material and methods. We analyzed the overall prevalence of nephropathies and the proportion of congenital malformations of the urinary system in the dynamics from 2001 to 2019; 697 patients aged 118 years were examined with assessment of clinical and anamnestic, laboratory, instrumental and radiological data in accordance with diagnostic standards and protocols. We studied the features of epidemiology and clinical manifestations of congenital kidney and urinary tract diseases in an area with an unfavorable environmental situation.
 Results. Over the past 2 decades, the general prevalence of nephropathies in the children's population has increased with an elevation in the proportion of congenital malformations of the urinary system. These indicators are significantly higher in an area with a high level of anthropogenic environmental pollution than in an area with a relatively favorable environmental situation. Features of congenital pathology of the kidneys and urinary tract in patients living in an environmentally unfavorable zone were revealed: the presence of mass deficiency, reduced resistance, combination with undifferentiated connective tissue dysplasia syndrome, more frequent attachment of microbial-inflammatory process, decreased concentration and evacuation function of the kidneys.
 Conclusions. These features of epidemiology and clinical manifestations of congenital malformations of the urinary system in patients living in a region with a high level of environmental pollution should be taken into account when carrying out their medical support.

Effect of Anthropogenic Atmospheric Pollutants on the Prevalence of Congenital Malformations in Newborns

Rationale.The congenital malformations are the important indicator of the environmental condition, and the anthropogenic pollution of the atmosphere effects strongly the incidence of malformations in the newborns.Purpose of the Study.It is the study of the cause-and-effect relationship between the incidence of malformations in newborns and anthropogenic atmospheric pollutants using the correlation and variance methods, and the development of the mathematical models to predict the formation of the congenital malformations depending on the specific pollutants.Material and methods.The correlation and variance methods were used to study the relationships of the main anthropogenic atmospheric pollutants with the incidence of the congenital malformations in all newborns in Belgorod city in 2000–2015. The predictive models were developed based on the regression method.Results.The most effect of the excess of the maximum allowable average daily concentrations of ammonia and carbon monoxide in the atmosphere on the prevalence of the congenital malformations of various systems and organs was determined with 11 reliable correlations with the congenital malformations studied and those in general. According to the results of the analysis of variance, the maximum level of the combined effect of the anthropogenic air pollutants was revealed for the congenital malformations of the musculoskeletal system (95.69%), face and neck (94.66%), central nervous system (92.31%), digestive system (93.76%).Conclusion.The regression models created at the level required assure the prediction of the various forms of the congenital malformations depending on the anthropogenic pollutants.

Studying the effects of profenofos, an endocrine disruptor, on organogenesis of zebrafish.

Profenofos is an endocrine-disrupting chemical that can enter into the aquatic ecosystem either through surface runoff or through percolation of a toxicant from the soil. In order to clarify the effect of profenofos on the developmental stages of zebrafish, the embryos were treated with serial dilutions of profenofos (0%, 10%, 25%, and 50% of LC50). Embryos were treated with profenofos for 7 days or until hatching. The toxic endpoints assessed include hatching time, survival, malformation, and heartbeats of the embryos. In a 96-h test on zebrafish embryos, the LC50 of profenofos was 0.057 mg/L. Profenofos considerably lowered survival, increased abnormalities at different ontogenetic stages, and developed malformations of different organs in a concentration-dependent fashion. The identified developmental malformations were fluid accumulation, impaired jaw, short tail, ruptured pectoral and caudal fin, curved body, thin yolk sac tube, and deformed heart. The way of looping arrangement of the heart at the early stage of embryos was significantly influenced by the higher concentration of profenofos. Heartbeat is also reduced significantly in a concentration-dependent fashion. The results show that the zebrafish are susceptible to profenofos even at lower concentrations in the initial stage. Therefore, when used in agricultural areas adjacent to the aquatic environment, endocrine-disrupting chemicals should be used in an appropriate manner.

Major cardiac defects in cattle in southern Brazil: retrospective study of necropsies over 20 years (2000-2019)

ABSTRACT: Cardiac malformations are reported to be relatively rare in bovine species, with ventricular septal defects being the most common abnormality observed predominantly in young calves. This report aims to describe the cardiac malformations observed in bovids and review the literature related to those malformations in this species. The necropsy reports of 1,783 bovids were reviewed, and 0.4% were diagnosed with a cardiac congenital defect. The most common cardiac congenital malformation detected in this study was ventricular septal defect, observed alone or associated with other anomalies (in one case, as part of tetralogy of Fallot); followed by atrial septal defect, also alone or with other cardiac malformations. Secondary findings in the lungs and liver were observed in 75% of all cases. Histologic cardiac lesions were identified in 25% of all cases, characterized mainly by fibrosis. Other congenital malformations in different organs were observed in 25% of the cases. Considering the importance of cardiac congenital malformations observed in this study, these conditions should be considered as a differential diagnosis for calves who died with no specific clinical signs. Furthermore, macroscopic evaluation is crucial for the diagnosis of cardiac congenital malformations.

Multiple Genitourinary Malformations Associated with Malformations of Other Organs – As a Rarity of Case Report

Congenital anomalies are not uncommon. Urogenital disorders can be isolated or associated with other malformations, but they are usually misdiagnosed at birth and found in physical examination or as urologic signs at adolescence. This case report presents a rare case of a 3-year-old female patient with multiple malformations including ectopic anus, crossed fused ectopic kidney, vaginal duplication, bladder duplication, and multiple organ malformations. Prenatal diagnosis, a detailed physical examination and early surgical treatment are particularly important for prevention of further complications. In this case report, the surgical approach was performed using the cutback technique for rectovaginal separation among other surgical procedures in order to achieve functionality.

Complex clinical and echographic assessment of the peculiarities of developmental anomalies of uterus and vagina in children and adolescents

The objective. To assess the structure of independent and combined forms of anomalies in the development of the uterus and/or vagina in children and adolescents, justifying the need for ultrasound screening in this age group.Materials and methods. The study involved 146 patients with malformations of the uterus and/or vagina at the age from 10 to 20 years. All patients underwent a clinical examination, which included anamnestic data, gynecological examination, and ultrasound examination. The calculation of indicators of the diagnostic information content of ultrasound was carried out taking into account the sensitivity, specificity and accuracy of the method.Results. In the course of the study, it was found that the largest proportion of all anomalies of the internal genitals was uterine malformations (37,0%), complete doubling of the uterus and vagina (17,1%), vaginal aplasia (15,1%). Genetic or chromosomal pathology was detected in 36 patients (24,7%), in the remaining 110 patients (75,3%) a multifactorial nature of the disease was assumed.Attention is drawn to the fact that 48 patients (32.8%) with uterine and/or vaginal malformations, who did not present complaints, were identified during the primary ultrasound screening, which indicates the effectiveness of this method in examining girls and adolescents. In 12 children (8,25%) in addition to abnormalities in the development of the uterus and/or vagina, ultrasound revealed tumors and tumor-like diseases of the uterine appendages. Also, 57 malformations of other organs and systems were revealed in 49 (33,6%) examined patients, and 8 (5,5%) had concomitant defects. In most cases, in 99 patients (67,8%) with anomalies in the development of internal genitalia, the anamnesis was aggravated by the factors of their parents (burdened heredity, disease, occupational health, etc.)Conclusion. As a result of a comprehensive clinical examination of patients with congenital anomalies in the development of internal genitalia, the diagnosis was clarified, the share of hereditary and some environmental factors in the manifestation of this pathology was revealed, which is one of the common gynecological diseases that are characterized by a variety of forms of anomalies, clinical symptoms and a high percentage of diagnostic errors. At puberty, the use of echography to clarify the state of the internal genital organs is of great practical importance. Non-invasiveness, absence of psychogenic traumatization, safety and high information content make it possible not only to diagnose congenital pathology, but also to use this method as a dynamic observation of the state of the uterus and/or vagina in girls and adolescents, which is very important when choosing rational methods for correcting this pathology

Variable Presentations in Pulmonary Arteriovenous Malformation

Pulmonary arteriovenous malformations (PAVM) are a group of vascular anomalies of lung which present with variable clinical symptoms. Most patients with PAVM are asymptomatic but it can cause dyspnea on exertion, paradoxical emboli to brain causing various central nervous system complications like stroke and brain abscess, hemoptysis and rupture. The age at the presentation can range from 1st to 7th decade but the majority of patients present before the age of 30 years. PAVM is strongly associated with hereditary haemorrhagic telangiectasis which presents with epistaxis, mucocutaneous telangiectasias and AV malformations of various organs. In our case series, we have patients ranging from 3 yrs to 75 years with presentation ranging from asymptomatic to exertional dyspnea, hemoptysis and neurological complications.

Аналіз факторів ризику при різних видах анестезіологічного супроводу новонароджених і немовлят із хірургічною патологією

High-quality anesthetic support during surgical correction of congenital malformations of internal organs and the postoperative period in newborns and infants is complicated by concomitant diseases, significantly affects the processes of metabolism, gas exchange, homeostasis, cerebral, peripheral hemodynamics, etc. before, during and after the surgical intervention. Purpose — to identify the leading risk factors associated with death in various types of anesthetic support for newborns and infants during surgical correction of congenital malformations. Materials and methods. The retrospective study included newborns with congenital malformations of the surgical profile, as well as infants who received and continued stepwise surgical treatment for congenital malformations, depending on the chosen combined anesthetic accompaniment (inhalation + regional anesthesia and inhalation + intravenous anesthesia). The study was carried out in the following stages: 1) to conduct surgical treatment and anesthetic support, 2) introduction of the child into anesthesia, 3) the traumatic stage of the operation, 4) within 1 hour after the operation, 5) 24 hours after the operation. Risk factors were determined by simple logistic regression with the calculation of the odds ratio, 95% confidence interval (95% CI). Results. Among the functional indicators of the vital functions of the body of children with congenital disorders before, during, immediately and 24 hours after surgery against the background of combined anesthesia, with a simple logistic regression analysis, the chance of a fatal case increases with deviations from the norm of peripheral saturation — at all stages of surgical support (7.8–15.0 times); cerebral oxygenation of the child — at the moments of induction into anesthesia and in the postoperative period (10.8 at the stage 2, 72.0 times at the stage 4); increased diastolic blood pressure at the stage of induction of the child into anesthesia (1.6 times). Conclusions. To prevent the chances of death under various types of anesthesia for children with congenital malformations during surgical treatment, it is advisable to more closely monitor blood pressure, cerebral, peripheral oximetry and promptly correct the impaired condition of the child. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: newborns, infants, congenital malformations, anesthesia, risk factors.

Male pseudohermaphrodite with persistent Mullerian duct: A radiologist’s and patient’s dilemma alike

This case study highlights that how a disorder of sexual development when goes unnoticed at birth and unreported during childhood or adolescence can present with major problems and even complications in adulthood. Since our patient was young and in a childbearing age, he presented with bilateral undescended testes and orgasmic anejaculation when he first came to the hospital. Subsequently, having a normal 46XY karyotype but remnants of persistent Mullerian duct made him little confused about his identity. After giving him the confidence, that he was still a male and could lead the life he did previously, the explanation about future risk of malignancy in the intra-abdominal testes was another difficult task. Early detection and management of male pseudohermaphroditism with persistent Mullerian duct requires a co-ordinated approach of a team of endocrinologist, physician, surgeon and radiologist. Integrated imaging in the form of ultrasound, genitography and MRI is important in demonstrating the anatomy, classification, possible effects or congenital malformations in other organs, warning patients of any risk of neoplasia and guiding the clinician to plan other investigations, hormonal replacement or reconstruction surgery if required. Such a systemic approach that allays anxiety and gives psychological relief to the patient should be taken as it can deeply change the life of a person and their family.

Monochorionic diamniotic twin with a Down syndrome in one of the fetuses

A clinical observation of monochorionic diamniotic twins with discordance of cytogenetic and clinical manifestations of Down syndrome is presented. Pregnancy was complicated by feto-fetal transfusion syndrome at 17 weeks of gestation. An ultrasound scan revealed a ventriculomegaly in a donor. Laser coagulation of anastomoses was performed. Karyotype 46, XY was established in the recipient amniocytes. The pregnancy ended in childbirth at 33 weeks with newborn boys weighing 1789 and 2080g. One of the newborns (donor) had phenotypic signs of Down syndrome. When karyotyping peripheral blood lymphocytes of a child with clinical manifestations of Down syndrome, karyotype mos 47,XY,+21[12]/46,XY [88] was established, and a child with a normal phenotype was mos 47,XY,+21[14]/46,XY [86]. No malformations of internal organs were found. When analyzing the buccal epithelium by the FISH method, it was found that in all the analyzed interphase nuclei obtained from a child without clinical manifestations (recipient fetus), trisomy 21 was not detected. In 78% of the interphase nuclei of cells of a child with Down syndrome (fetus-donor), trisomy 21 was established. Thus, the presence of a clone of cells with trisomy 21 in the recipient is associated with twin chimerism.

Синдром Пруне–Беллі: випадки з клінічної практики

Objective: to acquaint doctors of various specialties with clinical course, early diagnostics, and treatment strategy for a rare congenital anomaly — Prune Belly syndrome in children. Materials and methods. Inpatient medical records of municipal non-profit enterprise «Ivano-Frankivsk Regional Children's Clinical Hospital» of Ivano-Frankivsk Regional Council. Results. The paper presents the clinical course of a rare congenital anomaly — Prune Belly syndrome in two children. The disease occurs chiefly among boys manifesting itself as multiple congenital malformations including deficiency or aplasia of abdominal muscles, congenital anomalies of the kidneys and urinary tract (hydronephrosis, megaureter, hydroureter, megacystis, vesicoureteral reflux), bilateral cryptorchidism. In addition, Prune Belly syndrome can coexist with urethral pathology, as well as skeletal, cardiovascular, respiratory, gastrointestinal malformations. Conclusion. Modern views on the development, clinical course, and diagnosis of a rare congenital disease with multiple organ malformations — Prune Belly syndrome have been presented for doctors of various specialties. Prenatal diagnosis, detection of potential congenital malformations after birth allows selecting the correct algorithm for monitoring vital organ functions, syndromic treatment and making timely decision on internal organ transplantation. The study was carried out in accordance with the ethical principles of the Declaration of Helsinki. The study protocol was approved by the Local Ethics Committee of municipal non+profit enterprise «Ivano-Frankivsk Regional Children's Clinical Hospital» of Ivano-Frankivsk Regional Council. The informed consent to participate in the research study was obtained from all the children's parents. Conflict of Interest. The authors declare they have no conflict of interest. Key words: children, Prune Belly syndrome, diagnosis, therapy.

When the disease goes beyond the skin, changes in the skin can be a sign of systemic disease

Infantile hemangioma may be accompanied by malformations of internal organs and blood vessels. In 1996 PHACE syndrome was defined as a disease which is characterized by the association of segmental infantile hemangioma with localization in the head/neck region and the presence of malformations in the posterior cranial fossa, abnormalities of arterial blood vessels including coarctation of the aorta, heart defects, as well as malformations of the eyes and central nervous system. This article presents a clinical case of a child who was diagnosed this syndrome at the age of 1.5 months based on the presence of segmental hemangioma, as well as large and small criteria specific for this disease. In addition to the main symptoms, the child had an accompanying pathology: Wolff–Parkinson–White syndrome. Therapy with non-selective b-blockers and polychemotherapy allowed stopping already developed and prevent possible complications associated with this syndrome. Parents gave their consent to use information about the child, including fotos, in the article.

HEREDITARY HEMORRHAGIC TELANGIECTASIA: A REPORT OF 3 CASES

Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare genetic pathology of autosomal dominant inheritance. Clinically it is characterized by spontaneous and recurrent epistaxis, telangiectasias in the face, fingers, and oral cavity, as well as arteriovenous malformations in several organs. Three cases will be described: case 1- male, 71 years old, presence of petechia on the tongue, lips, buccal mucosa, nose and on the fingertips of both hands, and hematic crusts on the left septal mucosa; case 2- male, 60 years old, with telangiectasia on tongue, hematic crusts on the nasal vestibule, vascular ectasia in the anterior nasal septum bilaterally, telangiectasias on the fingers, and dilated capillaries on the thorax; case 3- female, 79 years old, with telangiectasias on the lips, buccal mucosa, tongue, hard and soft palate, hematic crusts on septal mucosa and lower turbinates, and telangiectasias on the fingertips. Currently, the patients are being followed up.

Incidentally detected pancake kidney: a case report

BackgroundCongenital anomalies of the urinary system are very common and have extremely varied presentation. Among them, the most rarely found structural anomaly is the pancake kidney. When both kidneys are fused along their medial surfaces to form a round-shaped single renal mass, it is termed as pancake kidney. In this case report, a pancake kidney was incidentally detected in a girl. The majority of individuals who have pancake kidney are usually asymptomatic but surgeons should be aware of coexisting malformation of other organs and its potential risk of developing malignancy.Case presentationA 12-year-old Bengali girl presented to our out-patient department with mild, dull aching, lower abdominal pain and dysuria. She had no history of fever, hematuria, menstrual abnormality, pelvic inflammatory disease, or trauma. Urine examination showed traces of albumin and 10–12 pus cells/high-power field. She had normal kidney function test but a digital X-ray of her kidney, ureter, and bladder region failed to demonstrate bilateral renal tissue shadows. Ultrasonography of her whole abdomen showed normal intra-abdominal organs except for empty bilateral renal fossa. A multi-detector computed tomography scan of her whole abdomen revealed one round-shaped mass measuring approximately 9 cm (vertical) × 10 cm (horizontal) in the pelvic cavity. That mass was finally identified as a pancake kidney. She was prescribed antibiotics based on urine culture and sensitivity test that cured her symptoms. She was advised to follow-up regularly in our out-patient department to evaluate her kidney function and to rule out any neoplastic change.ConclusionsThis condition can be managed conservatively, if the individual remains asymptomatic, by regular monitoring of renal function. Surgeons should remain alert for the development of infections, any obstructive manifestations leading to calculus formation, and any malignant changes. The individual should be careful in avoiding trauma to low-lying pelvic kidney. Extensive surgeries should be avoided and only selective procedures should be done so that the patient may lead a normal lifestyle.