A5075575780- Metabolism and Genetic Disorders
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Tumors and Oncological Cases
- Genetics and Neurodevelopmental Disorders
- Cystic Fibrosis Research Advances
- Genetic factors in colorectal cancer
- Cancer Diagnosis and Treatment
- Skin and Cellular Biology Research
- Congenital limb and hand anomalies
- Congenital heart defects research
- Cellular Mechanics and Interactions
- RNA modifications and cancer
- Congenital Ear and Nasal Anomalies
- Hair Growth and Disorders
- Fetal and Pediatric Neurological Disorders
- Sexual Differentiation and Disorders
- Genomics and Rare Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- RNA regulation and disease
- Diet and metabolism studies
- BRCA gene mutations in cancer
- Craniofacial Disorders and Treatments
- Neonatal and fetal brain pathology
- Soft tissue tumor case studies
Medical University of Sofia
2005-2025
Maichin Dom
2017-2024
Sofia University "St. Kliment Ohridski"
2024
Objectives: Monitoring pregnancies is essential for community well-being. However, not all progress normally, and some require termination. The objective was to emphasize the importance of trust in doctor–patient relationship during this challenging time expectant parents. Case report: During fetal morphology examination, parents were warned a poor prognosis, prompting request pregnancy They consulted another specialist, who reassured them that fetus appeared normal, though slightly...
The clinical phenotype of the chromosome 2q31 deletion syndrome consists limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomalies-for example, heart defects, ocular anomalies-may be present. Hemizygosity for HOXD13 EVX2 genes was thought cause observed skeletal defects. Recently, based on patients with overlapping interstitial deletions, a new SHFM5 locus proposed, proximal HOXD cluster, between marker D2S294....
Abstract We present three patients with SURF1 mutations. In addition to Leigh syndrome all had hypertrichosis, a clinical sign that is not usually associated syndrome. The hypertrichosis was congenital and it mainly distributed on the extremities forehead. our patients, we have identified five in literature due Since most onset of before diagnosis made, suggest clinicians consider with, for example, psychomotor retardation or other unspecific symptoms combination hypertrichosis. © 2005...
Key Clinical Message High‐dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome. Abstract syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It caused loss‐of‐function mutations SPINK5 gene, which encode key kallikrein protease inhibitor. There are two subtypes that differ clinical presentation immune profile: ichthyosiform...
Disorders/differences of sexual development (DSD) are a group conditions, some which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis wide spectrum is still in progress. The diagnosis 5-alpha-reductase type 2 (5α-reductase-2) deficiency difficult especially newborns and pre-pubertal individuals, as result its frequency might underestimated. In present study, we describe clinical characteristics defects 3 nonrelated 5α-reductase-2...
Dopa-responsive dystonia (DRD) comprises a group of rare autosomal inherited neurotransmitter disorders characterized with childhood or adulthood onset. We report three cases DRD. Two boys (1.5-year-old and 1.3-year-old) were diagnosed TH deficiency found to have compound heterozygous missense variants in the gene. For first patient p.Arg202His p.Leu205Pro gene, reported. In second revealed p.Thr373Met same The third patient, 10-years old boy was GCH1 due pathogenic variant (p.Lys224Arg)...
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It caused loss-of-function mutations in the SPINK5 gene, which encode key kallikrein protease inhibitor. There are two subtypes of that differ clinical presentation immune
Abstract Triploidy is a rare chromosomal aberration characterized by karyotype with 69 chromosomes. Triploid fetuses usually are miscarried in early pregnancy. We present case of triploid twin and genetically unaffected co-twin, conceived through vitro fertilization. A discordant growth was registered at 20 weeks gestation. Cesarean section performed 355/7 gestational week. The second extremely restricted female (780 g) oligohydramnios severe respiratory distress, died hours age. autopsy...
Abstract Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by combination of cerebellar and spinal motor neuron degeneration beginning at birth. caused mutations in EXOSC3 gene. High prevalence the p.Gly31Ala mutation was found recently, especially Roma ethnic minority. We present young Bulgarian family with two deceased newborn children manifesting neuromuscular including muscle weakness, respiratory distress, multiple joint contractures....
Abstract We present a case of 15-year-old girl, referred for genetic analysis based on clinical evidence intellectual disability and dysmorphic features with unknown etiology. Following testing, the proband was diagnosed Alazami-Yuan syndrome (ALYUS). ALYUS is rare autosomal recessive disorder characterized by developmental delay, disability, poor speech, congenital anomalies. Whole-genome sequencing targeted 1,610 genes associated were performed. One pathogenic homozygous missense variant...
Calculating the recurrence risk is an integral part of everyday practice genetic counselor, but certain difficulties occur when explaining it to parents a child with rare dysmorphic syndrome. We present case family first newborn multiple anomalies and exitus letalis, registered on second day. At birth, baby presented limb malformations. Additionally, spontaneous pneumothorax, neonatal cerebral ischemia, intraamniotic infection were diagnosed. A post-mortem examination revealed additional...