Mengenal Spina Bifida dan Pencegahannya

Neural tube defects (NTD) are one of the birth defects or congenital abnormalities that occur in the brain and spine, and commonly find in newborns worldwide. Anencephaly and spina bifida are the two prevalent forms of NTD. The incidence of spina bifida happen on average 1 in 1000 cases of birth worldwide and there are 140,000 cases per year worldwide. Source searches were carried out on the online portal of journal publications as many as 20 sources from MedScape, Google Scholar and the Nation Center for Biotechnology Information / NCBI with the keywords “Neural tube defects (NTD), prevention, and spina bifida”. Spina bifida is a congenital abnormality that occurs in the womb due to a failure of closing process the neural tube during the first few weeks of embryonic development which causes the spine not completely close around the developing spinal cord nerves. NTD can ensue multifactorial conditions such as genetic, environmental, and folate deficiency. The use of folic acid supplementation starting at least 3 months before pregnancy, those are 400 mcg (0.4 mg) per day and 800 mcg per day during pregnancy can reduce the risk of developing neural tube defects such as spina bifida. Generally, spina bifida is undertaking by surgery and the regulation of patients comorbid. Public can find out prevention to avoid or reduce the risk of spina bifida so that the incidence of spina bifida can decrease along with the increasing awareness of the community regarding this disease.

Environmental Exposures and Congenital Heart Disease

Congenital heart disease (CHD) is the most common congenital abnormality worldwide, affecting 8 to 12 infants per 1000 births globally and causing >40% of prenatal deaths. However, its causes remain mainly unknown, with only up to 15% of CHD cases having a determined genetic cause. Exploring the complex relationship between genetics and environmental exposures is key in understanding the multifactorial nature of the development of CHD. Multiple population-level association studies have been conducted on maternal environmental exposures and their association with CHD, including evaluating the effect of maternal disease, medication exposure, environmental pollution, and tobacco and alcohol use on the incidence of CHD. However, these studies have been done in a siloed manner, with few examining the interplay between multiple environmental exposures. Here, we broadly and qualitatively review the current literature on maternal and paternal prenatal exposures and their association with CHD. We propose using the framework of the emerging field of the exposome, the environmental complement to the genome, to review all internal and external prenatal environmental exposures and identify potentiating or alleviating synergy between exposures. Finally, we propose mechanistic pathways through which susceptibility to development of CHD may be induced via the totality of prenatal environmental exposures, including the interplay between placental and cardiac development and the internal vasculature and placental morphology in early stages of pregnancy.

Meckel’s diverticulum and its plethoric presentation in paediatric surgery: a case series

Meckel’s diverticulum (MD) is a congenital abnormality of the gastrointestinal tract resulting from incomplete obliteration of the vitellointestinal duct by 5th to 7th week of gestation. Incidence is 2% in the general population with a 2:1 male to female ratio. The various presentations of MD include gastrointestinal bleeding, intestinal obstruction, diverticulitis and intestinal perforation. Majority of the MD is asymptomatic however the potential risk of developing complication it's about 4-6%. Preoperative diagnosis of MD is challenging. We present 6 cases of MD managed at our centre over the course of 1 year. Two cases presented as intestinal obstruction secondary to mesodiverticular band from MD, one case with bleeding, two cases with intussusception and one case of meckel’s diverticulitis.

Case of successfully delivered dicavitary twins in uterus didelphus

Uterus didelphus is a congenital abnormality arising from failure of fusion of Mullerian ducts, creating two separate uterine horns, two cervices and, in some cases, a vagina divided by a longitudinal septum. In this case, a 26-year-old woman with previously undiagnosed uterus didelphus spontaneously conceived dicavitary twins. Although initially wanting a vaginal birth, when both twins were in a breech presentation, a caesarean section was performed at 36 weeks, delivering two healthy babies. We will discuss the risk of obstetric complications in uterus didelphus and the challenges surrounding a vaginal delivery.

Case Report: Orchiopexy in Two Poodle Dogs and Its Effect on Their Sperm Quality Parameters

Cryptorchidism is a common congenital abnormality encountered in veterinary clinics. The treatment of choice for this condition is a surgical procedure named orchiectomy or orchidectomy, where the retained testicle is removed. Surgical placement and fixation of the cryptorchid testicle into the scrotum, referred to as orchiopexy, is used in humans. However, due to the hereditary nature of cryptorchidism in dogs, this treatment option has not been proposed in veterinary clinics. Two adult Poodle dogs were referred to our research facility for a sperm parameter evaluation check. The two dogs were unilateral cryptorchid dogs treated with orchiopexy before the age of 6 months. Their sperm kinematics and morphology were within normal ranges, and their libido and testicles sizes were normal. Treatment of unilateral cryptorchidism by orchiopexy in dogs before the age of 6 months successfully restored spermatogenic function and sperm quality-related parameters. However, due to the nature of this condition, orchiectomy remains the treatment of choice.

Epidemiological Aspects of Cleft Lip and Cleft Palate

BACKGROUND A new-born baby having a cleft lip alone or a cleft lip with cleft palate is definitely painful to the parents. Such cases must be referred to a multi-disciplinary medical team having expertise in craniofacial defects. The role of a family doctor is significant in these cases as he / she is the one who can minimize the sufferings of the parents and their family members by ensuring antenatal diagnosis and extending support for the whole family post-diagnosis, during initial days of breastfeeding as well as bonding issues and also throughout an extended period of months and years of surgical interventions and speech therapies. These cleft lip and palate deformities are the most typical facial defects in children at birth. This leads to not only the altered appearance, defective speech, improper hearing, retarded growth of the baby but also deranged psychosocial well-being and disrupted social integration of the parents and family members. This article presents an overall epidemiological aspect of the said anomalies in the immense interest & benefit of all the concerned professionals. Patients with cleft lip or palate have significant problems in communication, and face difficulties with deglutition. The understanding of the anatomy and associated pathophysiology play a vital role in the management of these patients. The surgical correction remains the mainstay of treatment to date. This article describes common problems related to kids having cleft lip and palate anomalies and provides the latest surgical options available in such congenital cleft care. The genetic basis of the disease and recent advances in the developmental defects of this congenital abnormality is also discussed. In addition to physical corrections, psychological effects on the family need to be addressed at priority. The treating physician must consider the mental health of the parents. The current concepts of treatment will continue to evolve because of continuous developments in the fields of foetal surgery, genetic and tissue engineering. KEY WORDS Cleft, Lip, Palate, Aperture, Folic Acid, Congenital, Abnormality, Orofacial, Correction, Surgery

Penoscrotal Hypospadias, A 4- Year Follow-Up

Penoscrotal hypospadias, a severe congenital abnormality, can interfere with urinary, sexual, and aesthetic functions. This paper reports a 2-year follow-up of a penoscrotal hypospadias after urethroplasty using the Koyanagi-Nonomura technique. After surgery, there are some complication of urethrocutaneus fistula and infectio. This patient undergoes urethrocutaneus fistula repair and chateter was inserted into the new urethra which was resulted in normal urination function and penis size.

Successful treatment of type III atresia ani and rectovaginal fistula in a kitten

A six-weeks-old, female kitten presented with dehydration, depression, atresia ani and a discharge of watery feces from the vulvar opening. On radiographic examination, the blind-end of the rectum was determined to be >1 cm cranial from the anal dimple, classifying it as type III atresia ani. Atresia ani combined with a rectovaginal fistula is an uncommon congenital defect of the terminal rectum and anus that can occur in kittens. After supportive medical treatment for three days, the patient was strong enough for surgical correction. The distal rectal pouch was connected to the unperforated anus and the rectovaginal fistula was closed. The kitten recovered uneventfully and was able to defecate normally at 38 weeks follow-up. In this case report, the importance of early surgical correction to avoid potential life-threatening complications from this congenital abnormality is demonstrated.

IDENTIFICATION OF MOST COMMON CONGENITAL ABNORMALITY TYPES AMONG NEWBORN INFANTS: A HOSPITAL-BASED STUDY

The term “congenital abnormalities” signifies a disruption in the normal process of organogenesis occurring before birth: the earlier the insult, the grosser the abnormality. This research is the largest study aimed at identifying the most common congenital abnormality types among newborn infants in the neonatal care unit (NCU) of the Al-Kadhymia teaching hospital, Baghdad, Iraq. This prospective study was carried out during the period from February 1 to August 1, 2011. A total of 2700 neonates were admitted to the NCU, and 100 newborn infants in the nursery care unit were proven to have congenital abnormalities by physical examination alone. The questionnaire for neonatal evaluation included: gestational age, sex, body weight, and type of congenital anomaly. The results showed that of the total (100) affected neonates, 63 (63%) were full term, 55% had neurological abnormalities, followed by 12% with cleft lip and palate and then 11% with chromosomal abnormalities (most of them had Down syndrome, only 3 cases had Edward syndrome, and 1 case had Patau syndrome). It can be concluded that most of the affected newborns were full term, with a slight male predominance. The incidence of neurological abnormalities was higher than other types of birth defects.