BACKGROUND: Imperforate hymen is the most common congenital defect of the female urogenital tract. The spectrum of clinical manifestations is broad, ranging from mild cases undiagnosed until adolescence to severe cases of giant intraabdominal masses. The most common complication of hydrocolpos is bladder compression, resulting in obstructive uropathy and hydronephrosis. CASE PRESENTATION: We present here the case of a preterm neonate who was admitted to the surgical neonatal intensive care unit for bowel obstruction. The baby did not appear septic or unwell, a small amount of meconium passed frequently, and no bilious gastric residuals occurred. Based on these findings, acute abdominal obstruction was doubtful, and the surgeon chose a conservative (watch and wait) approach. Subsequently, we performed abdominal ultrasound and magnetic resonance imaging based on unclear information about a suspicious abdominal mass raised by the gynecologist shortly before the emergency C-section. The final diagnosis was congenital hydrocolpos due to imperforate hymen. The pediatric gynecologist indicated an incision of the imperforate hymen under general anesthesia. The incision resolved abdominal distention as well as the bowel obstruction. CONCLUSION: The presentation of hydrocolpos was not typical (no bulging in the vaginal introitus) in our case, and clinical symptoms implied acute bowel obstruction shortly after birth. The surgeon chose a conservative (watch and wait) approach as the baby did not appear unwell on the second day of life. Fortunately, diagnostic laparotomy was not required as the next step in bowel obstruction management. All clinical symptoms resolved after a minor surgical procedure.
- Publikační typ
- časopisecké články MeSH
Sepsis is a major cause of lethality in neonatal intensive care units. Despite significant advances in neonatal care and growing scientific knowledge about the disease, 4 of every 10 infants born in developed countries and suffering from sepsis die or experience considerable disability, including substantial and permanent neurodevelopmental impairment. Pharmacological treatment strategies for neonatal sepsis remain limited and mainly based upon early initiation of antibiotics and supportive treatment. In this context, numerous clinical and serum-based markers have been evaluated for diagnosing sepsis and evaluating its severity and etiology. MicroRNAs (miRNAs) do not encode for proteins but regulate gene expression by inhibiting the translation or transcription of their target mRNAs. Recently, it was demonstrated in adult patients that miRNAs are released into the circulation and that the spectrum of circulating miRNAs is altered during various pathologic conditions, such as inflammation, infection, and sepsis. Here, we summarize current findings on the role of circulating miRNAs in the diagnosis and staging of neonatal sepsis. The conclusions point to substantial diagnostic potential, and several miRNAs have been validated independently by different teams, namely miR-16a, miR-16, miR-96-5p, miR-141, miR-181a, and miR-1184.
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Respiratory distress syndrome caused by a secondary surfactant deficiency is one of the most common diagnoses requiring admission to the Neonatal Intensive Care Unit. We illustrate the case of a term female newborn without prenatal and peripartal risks. There had been significant signs of respiratory distress 4 h after delivery. The condition gradually worsened to the point of needing oscillatory ventilation. The most common infectious and non-infectious causes were excluded. Considering the course of illness, a congenital surfactant deficiency was suspected. There nevertheless was no significant improvement after administration of surfactant. Following a short period of palliative care, the child died at 34 days of age due to respiratory failure. DNA diagnostics revealed compound heterozygosity of ABCA3 functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation of ABCA3 c.737C>T had not to date been described in connection with primary surfactant deficiency.
- Publikační typ
- kazuistiky MeSH
Náhlý neočekávaný kolaps novorozence (Sudden Unexpected Postnatal Collapse of Newborn, SUPC) je v neonatologii relativně novou diagnózou, která je charakterizována náhlým kardiopulmonálním kolapsem u zdravého novorozence bez prenatálních a peripartálních rizik v prvních sedmi dnech života. V současné odborné literatuře neexistuje ustálená definice této klinické jednotky, což je jeden z důvodů nemožnosti určení přesné incidence. Cílem článku je přehledný popis této klinické jednotky, včetně jejich aktuálně uznávaných diagnostických kritérií a popisu rizikových faktorů. Součástí je kazuistické sdělení z pracoviště autorů.
Sudden unexpected postnatal collapse of newborn, SUPC is relatively new diagnosis in neonatology, characterized by sudden cardiopulmonal collaps at apparently heatlhy newborn in fist seven days of life. Accurate definition of SUPC currently doesn´t exist at literature. This is one of reasons why setting right incidence of SUPC remains challenging. Aim of article is to review this new phenomenon, with current widly accetable diagnostic criteria and description of well known rick factors. Case report from autors workplace is part of article.
- Klíčová slova
- náhlý neočekávaný kolaps novorozence,
- MeSH
- dvojčata MeSH
- kardiopulmonální resuscitace MeSH
- klokánkování MeSH
- lidé MeSH
- náhlá smrt kojenců * diagnóza etiologie prevence a kontrola MeSH
- novorozenec MeSH
- péče o pacienty v kritickém stavu metody MeSH
- respirační insuficience * etiologie komplikace terapie MeSH
- rizikové faktory MeSH
- terapeutická hypotermie MeSH
- výsledek terapie MeSH
- vztahy mezi matkou a dítětem MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
