Group B Streptococcus and Perinatality in the South of Tunisia: Epidemiology, Serotype Distribution, and Antibiotic Susceptibility.

INTRODUCTION: In the lack of updated Tunisian epidemiological data, we sought to describe the epidemiology of Group B Streptococcus (GBS) in pregnant women and newborns. MATERIALS AND METHODS: A retrospective analysis of GBS neonatal invasive infections and a cross-sectional study evaluating the prevalence of maternal GBS colonization were conducted. GBS isolates were tested for antimicrobial susceptibility, serotyped, and assessed for the appurtenance to the hypervirulent ST17 clone. RESULTS: Of 98 neonates with GBS, early-onset GBS disease (EOD) comprised 83.7 and 16.3% were late-onset GBS disease (LOD). The prevalence of maternal GBS colonization was 27%. All GBS isolates were susceptible to penicillin. Serotype III predominated (42.6%) for neonatal invasive infections. GBS isolates belonging to the ST17 sequence type were found only as serotype III. CONCLUSION: This study documents the frequency of GBS EOD, the high rate of maternal GBS colonization, and the predominance of the hypervirulent clone type III/ST17 in infants.

Acral blisters in neonates: Three rare and benign diseases.

Exclusive acral involvement in neonatal pemphigus is unusual. Blisters in neonatal bullous pemphigoid, affecting 2%-3% of newborns of mothers with gestational pemphigoid, can be located in the trunk, limbs and acral areas. Unlike neonatal bullous pemphigoid, which can appear up to 5 days after birth, neonatal pemphigus is often revealed at birth. They are benign diseases in newborns. There is no correlation between the disease severity in babies and mothers. Neonatal risk is dominated by the side effects of corticosteroid therapy.

Treacher Collins syndrome: A case report and review of literature.

Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist in our case. Goldenhar syndrome shares with TCS some facial features which are not symmetrical and it is also associated with vertebral abnormalities. Some patients with TCS are exposed to many complications and they require multi-disciplinary medical care. But all of them need psychiatric care to fight social rejection. The aim of our report is to describe the most common features of TCS and similar syndromes. Also, report the involved genetic mutations, some associated complications, and their management.

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.

AIM: The aim of the study is to report on epidemiological, clinical, and biochemical characteristics of nonketotic hyperglycinemia (NKH) in Tunisia. METHODS: Patients diagnosed with NKH in Laboratory of Biochemistry at Rabta hospital (Tunis, Tunisia) between 1999 and 2018 were included. Plasma and cerebrospinal fluid (CSF) free amino acids were assessed by ion exchange chromatography. Diagnosis was based on family history, patient's clinical presentation and course, and increased CSF to plasma glycine ratio. RESULTS: During 20 years, 69 patients were diagnosed with NKH, with 25 patients originating from Kairouan region. Estimated incidences were 1:55,641 in Tunisia and 1:9,684 in Kairouan. Consanguinity was found for 73.9% of the patients and 42% of the families have history of infantile death due to a disease of similar clinical course than the propositus. Clinical symptoms initiated within the first week of life in 75% of the patients and within the first 3 months in 95.7% ones. The phenotype was severe in 76.8% of the patients. Main symptoms were hypotonia, feeding difficulties, coma, apnea, and seizures. Most patients died within few days to months following diagnosis. CSF to plasma glycine ratio was increased in all patients. CSF and plasma glycine levels were negatively correlated with age of disease onset and severity. CONCLUSION: NKH is quite frequent in Tunisia. Kairouan region has the highest NKH incidence rate, worldwide. However, due to lack of confirmatory enzymatic and genetic tests, NKH diagnosis was based on first-line biochemical tests. Characterization of causal mutations is needed for accurate diagnosis and prenatal diagnosis of this devastating life-threatening disease.

Risk factors of early mortality after neonatal surgery in Tunisia.

BACKGROUND: Research concerning factors of death after neonatal surgery is scarce. Insight into mortality might improve perioperative care. This study aimed to identify predictive factors of mortality after neonatal surgery in a low income country (LIC). METHODS: Charts of all newborn patients who underwent surgical procedures under general anesthesia during the neonatal period in our department of pediatric surgery between January 2010 and December 2017 were reviewed. We used univariate and multivariate analysis to evaluate perioperative variables potentially predictive of early postoperative mortality. RESULTS: One hundred eighty-two cases were included in the study: 41 newborns (28.6%) were premature (<37 weeks of gestation) and 52 (22.5%) weighed less than 2.5 kg. The most commonly diagnosed conditions were esophageal atresia (24%) and bowel obstruction (19%). Forty-four patients (24%) died during hospitalization. The highest rate of mortality was observed for congenital diaphragmatic hernia. Univariate analysis showed that perinatal predictive variables of mortality were prematurity, low birth weight, the necessity of preoperative intubation, and duration of surgery more than 2 h. Logistic regression showed three independent risk factors, which are the duration of surgery, low birth weight and the necessity of preoperative intubation. CONCLUSION: The overall mortality in infants undergoing neonatal surgery is still high in LICs. Knowledge of independent risk factors of early mortality may help clinicians to more adequately manage the high-risk population. TYPE OF THE STUDY: Clinical research paper. LEVEL OF EVIDENCE: III.

[Premature birth: a risk factor for maternal depression?] / L'accouchement prématuré : un facteur de risque de dépression maternelle ?

Premature birth constitutes a major ordeal not only for the child but also the mother. It reveals the psychological capacities of mothers with depressive affects as signs. Hedi Chaker university hospital in Sfax in Tunisia carried out a study on mothers of premature babies. These mothers were significantly more depressed. Certain factors appear to favour the occurrence of postnatal maternal depression and must therefore benefit from specific support.

Extremely preterm infants in Tunisia: Where are we now?

BACKGROUND: Extremely preterm infants are newborns born before 28 weeks of gestation. Survival of these immature newborns depends on resuscitation and the quality of care during hospitalization. OBJECTIVE: To determine survival and neurologic outcomes at2 years after extremely preterm birth. METHODS: It is a retrospective multicentric study in 5 neonatal intensive care units (NICU) in 2012-2013.All live births less than 28 weeks gestation were included. RESULTS: A total of 109 births were recorded. Prenatal corticosteroids were given in 47% of cases. Mean weight was 989g and mean age was 26 weeks gestation. Ninety percent of patients had respiratory distress syndrome and 67% of them needed respiratory support. Surfactant was given to 29% of newborns. The mortality rate atdischarge was 76%.The first cause of mortality was nosocomial infections. At thecorrected age of 2 years, 27% of survivors had abnormal neurologic outcome. CONCLUSION: In our study, survival and neurologic outcomes ofextremely preterm infants were poor.In this high-risk population, improving perinatal care remains a challenge to improve long-term outcome in Tunisia.

Transported neonates in Tunisia.

AIMS: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome. METHODS: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded. All neonates were followed up till discharge or death. RESULTS: A total of 239 consecutive neonates were enrolled in the study representing 5.7% of all admitted infants. Maternal risk factors were present in 26% of neonates admitted. Sex-ratio was 1.46. Preterm infants represented 24% of transported babies. Seventeen percent of neonates had severe respiratory distress and 10% had hemodynamic troubles. Referred hospital was not informed in 24% of cases. Regarding the transport mode, 113 newborns (47.5%) were transported in ambulance accompanied by a nurse. Documentation during transfert was present in 14% of cases. Five babies expired on arrival despite resuscitation.  Rate mortality was 8.4%. CONCLUSION: Transporting neonates in developing countries is a challenge. Organized transport services in Tunisia are not always available. So, in cases of at-risk pregnancy, it is safer to transport the mother prior to delivery than to transfer the sick baby after birth.

Is there a Place for Prebiotics in the Management of Neonatal Inguinal Hernia? A Preliminary Study.

The objective of this study was to assess the place of prebiotics in the management of neonatal inguinal hernia. Boys with a diagnosis of unilateral non-complicated inguinal hernia, aged less than 40 days, were prospectively followed from January 2012 to December 2014. Clinical and psychiatric data and outcomes were collected before and after prebiotics (Primalac AC) administration. Ninety-eight patients were included. There were 75 inguinal hernias and 23 inguino-scrotal hernias. Before prebiotics administration 72.2% of infants had abdominal distention and 98% had colic. After prebiotics, abdominal distention and colic regressed in 85.2% and 73.2% of patients, respectively. Hernias disappeared clinically in 66.3% of cases. The factors associated with the disappearance of hernias were the type of the hernia (p<0.001), colic (p<0.001), and abdominal distention (p<0.001). Prebiotics would be a new adjunct in the management of neonatal inguinal hernia. They decrease colic and abdominal distention, which seems helpful to prevent strangulation and probably get spontaneous resolution of small hernias.

Primary neonatal diaphragmatic abscess.

Neonatal diaphragmatic abscesses are extremely rare and they usually develop by direct extension from a liver abscess. The first case of primary diaphragmatic abscess in a neonate is reported and the difficulties of diagnosing this rare entity are discussed.

Unique giant cardiac tumor in an infant: rhabdomyoma or fibroma?

We report a case of giant cardiac tumor diagnosed at fetal life and thought to be a fibroma. Six months later, a marked regression of the tumor size was observed. Diagnosis of rhabdomyoma was retrospectively made. Tuberous sclerosis was then suspected and MRI showed many signs of consistent diagnosis.

Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate.

AIM: To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. METHODS: We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. RESULTS: Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. CONCLUSION: The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.

[Disclosing birth defects to parents]. / Les modalités et circonstances de l'annonce du handicap à révélation néonatale.

A descriptive transversal study was carried out by the child psychiatry and neonatology team of Hedi-Chaker General Hospital in Sfax, Tunisia. Its aim was to study the methods and circumstances of the announcement of a disability confirmed during the infant's first days of life. The results of the study show that when the announcement is made by an experienced, trained team, and in favourable conditions, it leads to better acceptance of the disability by the parents.

Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by seizures and therapeutic response to pharmacological dose of pyridoxine. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde (α-AASA) dehydrogenase (antiquitin), have been reported to cause PDE in most patients. In this study molecular analysis of seven PDE Tunisian patients revealed a common missense c.1364T>C mutation in the ALDH7A1 gene. The identification of a cluster of PDE pedigrees carrying the c.1364T>C mutation in a specific area raises the question of the origin of this mutation from a common ancestor. We carried out a genotype-based analysis by way of genotyping a new generated microsatellite marker within the ALDH7A1 gene. Genotype reconstruction of all affected pedigree members indicate that all c.1364T>C mutation carriers harbored the same allele, indicating a common ancestor. The finding of a founder effect in a rare disease is essential for the genetic diagnosis and the genetic counseling of affected PDE pedigrees in Tunisia.

Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.

Pyridoxine-dependent Epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. It is characterized by seizures that are resistant to common anticonvulsants, but patients respond well to the administration of pyridoxine. PDE is caused by ALDH7A1 genetic defect. Here, we report the disease-causative variant in the ALDH7A1 gene in two affected Tunisian families. Direct sequencing analysis revealed a novel missense mutation c.1364T>C (p.Leu455Pro). Using bioinformatic tools we suggested that this variant may have deleterious effects on ALDH7A1 protein structure and function.

Iatrogenic neonatal bladder perforation.

Neonatal bladder rupture is rare as a complication of bladder obstruction due to abnormal anatomy or iatrogenic causes. The present study describes the case of a 3-day-old infant with ascites due to bladder perforation secondary probably to manual decompression of the bladder. The infant underwent successful surgical repair of the perforation.

Neonatal ovarian lymphangioma.

Ovarian cysts are primarily of follicular origin and ovarian lymphangioma is an extremely rare lesion. We report a case of prenatal diagnosis of unilateral ovarian cyst in which pathologic examination revealed an ovarian lymphangioma. Ovarian cystic lymphangioma should be included in the differential diagnosis of an ovarian cyst mass in neonate.

Nicardipine versus salbutamol in the treatment of premature labor: comparison of their efficacy and side effects.

THE OBJECTIVE: To compare the tocolytic action and the side effects of nicardipine to those of salbutamol in patients presenting premature labor in order to propose nicardipine as a promising alternative to salbutamol in the treatment of premature labor. METHODS: forty eight patients admitted for premature labor were included in this prospective randomized study comparing nicardipine and salbutamol, administered with intra venous drip. The nicardipine group included 25 patients and the salbutamol group included 23 patients. RESULTS: the epidemiologic characteristics of the 2 groups are similar. No significant difference between the 2 groups was noted in the average time of disappearance of the uterine contractions. In nicardipine group, the pregnancy was prolonged more than 48 hours in 87.5% of the cases against 85.8% in salbutamol group (P: NS). Adverse effects linked to tocolysis were recorded. In nicardipine group, 8% of the patients presented an intolerance of the molecule, against 47% of salbutamol group, the difference is significant (P = 0.02). The term of delivery was similar in both groups The neonatal status of the infants was identical in the two groups. In the group of new born hospitalized, we did not note biological disorders concerning the glycemia and the calcemy. CONCLUSION: nicardipine is at least as effective as salbutamol in tocolysis; but it has lest secondary effects. Thus, nicardipine is proposed as the tocolytic of first intention instead of the salbutamol which is considered as reference molecule.

Vaginal polyp in a newborn.

Vaginal fibroepithelial polyp is a rare lesion, and although benign, it can be confused with malignant connective tissue lesions. Treatment is simple excision, and recurrence is extremely uncommon. We report a case of a newborn with vaginal fibroepithelial polyp. The authors suggest that vaginal polyp must be considered in the evaluation of interlabial masses in prepubertal girls.