Browsing by Author "Basa, Mihail (57217286306)"

Introduction. Disorders of sexual development can present isolated or as a part of complex genetic syndromes. Case presentation. A newborn with ambiguous genitalia and prenatally diagnosed brain malformations was referred to our hospital. Prenatal ultrasound examination and MRI showed lissencephaly and absence of the corpus callosum. At admission, physical examination revealed microphallus, hypospadia and complete fusion of labioscrotal folds with nonpalpable gonads, normal blood pressure and serum biochemistry. Cortisol level was normal (201 nmol/L), testosterone elevated (14.4 nmol/L), FSH 0.1 IU/L, LH 0.7 IU/L, estradiol 241 pmol/L. Seizures were noted on the 2nd day and the child was started on anticonvulsives. When 17-OHP level results came back elevated (200 nmol/L), ACTH test was performed and the child was started on hydrocortisone and fludrocortisone treatment. Congenital adrenal hyperplasia became unlikely when karyotype result showed normal male karyotype (46, XY, SRY+) with no Mullerian structures seen on ultrasonographic exam. As association of ambiguous genitalia and lissencephaly strongly suggested a mutual genetic background, diagnosis of X-linked lissencephaly with ambiguous genitalia (X-LAG) became apparent. Conclusions. The presented case highlights the importance of looking at the whole clinical picture instead of separate isolated findings with emphasis on patient-centered approach guided by clinical findings and patient history. © 2021, Acta Endocrinologica Foundation. All rights reserved.

Introduction. Disorders of sexual development can present isolated or as a part of complex genetic syndromes. Case presentation. A newborn with ambiguous genitalia and prenatally diagnosed brain malformations was referred to our hospital. Prenatal ultrasound examination and MRI showed lissencephaly and absence of the corpus callosum. At admission, physical examination revealed microphallus, hypospadia and complete fusion of labioscrotal folds with nonpalpable gonads, normal blood pressure and serum biochemistry. Cortisol level was normal (201 nmol/L), testosterone elevated (14.4 nmol/L), FSH 0.1 IU/L, LH 0.7 IU/L, estradiol 241 pmol/L. Seizures were noted on the 2nd day and the child was started on anticonvulsives. When 17-OHP level results came back elevated (200 nmol/L), ACTH test was performed and the child was started on hydrocortisone and fludrocortisone treatment. Congenital adrenal hyperplasia became unlikely when karyotype result showed normal male karyotype (46, XY, SRY+) with no Mullerian structures seen on ultrasonographic exam. As association of ambiguous genitalia and lissencephaly strongly suggested a mutual genetic background, diagnosis of X-linked lissencephaly with ambiguous genitalia (X-LAG) became apparent. Conclusions. The presented case highlights the importance of looking at the whole clinical picture instead of separate isolated findings with emphasis on patient-centered approach guided by clinical findings and patient history. © 2021, Acta Endocrinologica Foundation. All rights reserved.

Background/Objectives: Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disorder characterized by respiratory dysfunction that significantly impacts quality of life and longevity. This study aimed to explore the outcomes of pulmonary function tests and sleep-disordered breathing (SDB) workups in children with DM1 and to identify the factors contributing to SDB. Methods: A retrospective study examined patients’ medical records, including genetic analyses, clinical characteristics, and noninvasive pulmonary function testing (PFT), when possible. The Pediatric Sleep Questionnaire (PSQ), arterial blood gases, polygraphy, and overnight transcutaneous capnometry (PtcCO2) were used to assess SDB. Results: The size of CTG expansion in the DMPK gene directly correlated with the severity of respiratory complications and the need for early tracheostomy tube insertion in 7/20 (35%) patients. A total of 13/20 (65%) children were available for respiratory evaluation during spontaneous breathing. While moderate/severe obstructive sleep apnea syndrome (OSAS) and hypoventilation were confirmed in 4/13 (31%) children, none of the patients had mixed or dominantly central sleep apnea syndrome. There was no correlation between apnea–hypopnea index (AHI) or PtcCO2 and the presence of SDB-related symptoms or the PSQ score. Although a significant correlation between AHI and PtcCO2 was not confirmed (p = 0.447), the oxygen desaturation index directly correlated with PtcCO2 (p = 0.014). Conclusions: While SDB symptoms in children with DM1 may not fully correlate with observed respiratory events or impaired gas exchange during sleep, a comprehensive screening for SDB should be considered for all patients with DM1. Further research into disease-specific recommendations encompassing the standardization of PFT, as well as overnight polygraphic and capnometry recordings, could help to guide timely, personalized treatment. © 2025 by the authors.

Background/Objectives: Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disorder characterized by respiratory dysfunction that significantly impacts quality of life and longevity. This study aimed to explore the outcomes of pulmonary function tests and sleep-disordered breathing (SDB) workups in children with DM1 and to identify the factors contributing to SDB. Methods: A retrospective study examined patients’ medical records, including genetic analyses, clinical characteristics, and noninvasive pulmonary function testing (PFT), when possible. The Pediatric Sleep Questionnaire (PSQ), arterial blood gases, polygraphy, and overnight transcutaneous capnometry (PtcCO2) were used to assess SDB. Results: The size of CTG expansion in the DMPK gene directly correlated with the severity of respiratory complications and the need for early tracheostomy tube insertion in 7/20 (35%) patients. A total of 13/20 (65%) children were available for respiratory evaluation during spontaneous breathing. While moderate/severe obstructive sleep apnea syndrome (OSAS) and hypoventilation were confirmed in 4/13 (31%) children, none of the patients had mixed or dominantly central sleep apnea syndrome. There was no correlation between apnea–hypopnea index (AHI) or PtcCO2 and the presence of SDB-related symptoms or the PSQ score. Although a significant correlation between AHI and PtcCO2 was not confirmed (p = 0.447), the oxygen desaturation index directly correlated with PtcCO2 (p = 0.014). Conclusions: While SDB symptoms in children with DM1 may not fully correlate with observed respiratory events or impaired gas exchange during sleep, a comprehensive screening for SDB should be considered for all patients with DM1. Further research into disease-specific recommendations encompassing the standardization of PFT, as well as overnight polygraphic and capnometry recordings, could help to guide timely, personalized treatment. © 2025 by the authors.

Home mechanical ventilation (HMV) is a method of treatment in children with sleep-disordered breathing (SDB) and alveolar hypoventilation regardless of primary disease. The goal of the study was to describe the changes in the HMV program in Serbia during the last two decades. Cross-sectional retrospective study included data from the national HMV database from 2001 until 2019. HMV was initiated in clinically stable patients after the failure to wean from mechanical ventilation succeeded acute respiratory deterioration or electively after the confirmation of SDB and alveolar hypoventilation by sleep study or continuous transcutaneous capnometry and oximetry. The study included 105 patients (50 ventilated noninvasively and 55 ventilated invasively via tracheostomy). The median age at the time of HMV initiation was 6.2 years (range: 0.3–18 years). Invasive ventilation had been initiated significantly earlier than noninvasive ventilation (NIV) (p < 0.01), without difference in duration of ventilatory support (p = 0.95). Patients on NIV were significantly older (p < 0.01) than those ventilated invasively (13 and 1.5 years, respectively). Average waiting time on equipment had been shortened significantly—from 6.3 months until 2010 to 1 month at the end of the study (p < 0.01). Only 6.6% of patients had obstructive sleep apnea syndrome (OSAS) requiring HMV. During the study period, 24% patients died, mostly due to uncontrolled infection or progression of underlying disease. Availability and shortened waiting time for the equipment accompanied by advanced overall health care led to substantial improvements in the national HMV program. However, future improvements should be directed to systematic evaluation of SDB in patients with OSAS, early diagnosis of nocturnal hypoventilation, and subsequent timely initiation of chronic ventilation. © Copyright © 2020 Basa, Minic, Rodic and Sovtic.

This retrospective study aimed to investigate the clinical features and treatment of pediatric subglottic hemangioma (SH), identify risk factors for treatment-induced adverse effects, and identify a strategy for timely therapy discontinuation in children diagnosed with SH at the national pediatric center. Medical records of patients presented with stridor from 2010 to 2020 were retrieved and assessed, the diagnosis of SH was established via flexible bronchoscopy, and the patients were treated using propranolol with a subsequent gradual dose increase to 3 mg/kg body weight daily. A two-week oral steroids trial was added for those with circumferential lesions. Early indicators of a good therapeutic response included decreased stridor and primary lesion size on follow-up bronchoscopy performed one week after propranolol commencement. Duration of therapy, tailored individually based on bronchoscopy findings, and at least twelve months of treatment were the two main criteria for deciding therapy termination. Outpatient visits were arranged at least every three months. Our results showed that SH was the third most frequent cause of stridor (15/137 patients), and biphasic stridor was uniformly present as a typical symptom. Both clinical improvement and bronchoscopy findings confirmed the efficacy of the treatment. The mean therapy duration was 17 months. The only significant adverse event observed was hypoglycemic seizures in one infant. Contributory factors were all prematurity, high propranolol dose (3 mg/kg) and poor oral intake. Collectively, defining a safe and timely protocol for therapy cessation and avoidance of risk factors for adverse effects is the mainstay of SH treatment. © 2023 The Author(s).