Search

Copyright of Lijecnicki Vjesnik is the property of Croatian Medical Association and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Due to life-threatening complications, vascular Ehlers-Danlos syndrome (vEDS) is the most severe form of EDS. Because the syndrome is associated with a shortened life expectancy and variable clinical presentation, diagnosis confirmed by genetic testing is crucial to determining appropriate treatment. Despite some distinguishing features, this rare disease often goes unrecognized. Apart from surgical or endovascular treatment of serious vascular complications, medical treatment based on celiprolol helps reduce arterial complications. We report on a case of vEDS in a young man who suffered several episodes of severe vascular complications. The diagnosis of vEDS was established based on clinical manifestations and confirmed by genetic testing. A novel heterozygous pathogenic variant in the COL3A1 gene was found. To our knowledge, this is the first case of vEDS caused by this variant. [ABSTRACT FROM AUTHOR]

Background: It is estimated that every seventeenth citizen of the European Union are expected to develop symptoms of a rare disease in their lifetime meaning that most doctors will likely encounter these patients during their careers. However, the diversity of the causes and symptoms of these diseases often leads to a delayed diagnosis. Aim: This case highlights the importance of recognizing patients with rare diseases, as early diagnosis and a multidisciplinary approach can prevent irreparable damage and enhance quality of life. Case report: We present a 38-year-old patient experiencing heart palpitations and tingling on the left side of the face, neck, and arm, lasting for several days. The patient has a history of nearsightedness and eye procedures, and lost vision in one eye after giving birth. The patient’s mother has an enlarged aortic root, but without eye symptoms. The patient’s clinical status also includes high height, dolichostenomelia, significant vision loss, and arachnodactyly. After a normal ECG, an echocardiography was performed, revealing a bicuspid aortic valve and an enlarged ascending aorta with a suspected aortic dissection, which was later ruled out. The patient was referred to a geneticist, who confirmed a diagnosis of Marfan syndrome (MFS) through genetic testing. Due to the progression of the size of the ascending aorta, further monitoring and surgery are recommended, but the patient is not currently inclined to undergo these procedures. The patient is being treated with nebivolol and losartan instead.Conclusion: MFS is a hereditary systemic connective tissue disease that affects the aorta, eyes, and skeleton and joint systems, caused by mutations in the FBN1 gene. The life span of patients with MFS has improved with better recognition and treatments, but cardiovascular complications remain the most common cause of morbidity and mortality. [ABSTRACT FROM AUTHOR]

Prikazujemo žensko dojenče s fenotipskim karakteristikama sindroma Cornelia de Lange kod kojeg je dokazana i uspješno kirurški liječena pridružena malrotacija crijeva. Svrha je rada upozoriti na činjenicu da malrotacija crijeva, iako ne pripada skupini učestalih simptoma sindroma Cornelia de Lange, ne smije biti izostavljena u diferencijalnoj dijagnostici gastrointestinalnih tegoba u navedenih bolesnika. [ABSTRACT FROM AUTHOR]

Copyright of Lijecnicki Vjesnik is the property of Croatian Medical Association and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Orofacial clefts are one of the most common craniofacial malformations in newborns. They can occur as part of a distinct genetic syndrome, multiple congenital anomaly syndrome or as an isolated malformation. Affected individuals initially face feeding difficulties, and speech, hearing and dental problems later in life. Patients can experience lifelong psychosocial effects from these malformations. The best treatment success is achieved by multidisciplinary team approach. Identification of many genes and loci that contribute to the etiology of these disorders has been the subject of numerous studies using multiple genetic approaches. Significant progress has been made recently due to advances in the sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. [ABSTRACT FROM AUTHOR]

Copyright of Paediatria Croatica is the property of Paediatria Croatica and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Collegium Antropologicum is the property of Croatian Anthropological Society and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is considered the most severe form of EDS because of its typical life-threatening complications in young adults: spontaneous rupture of arteries, uterus or intestine. The prevalence of vEDS is at least 1:200.000. It is associated with autosomal dominant mutation in COL3A1 gene, which encodes pro-alpha 1 chains of type III collagen. The median life expectancy is 48 to 51 years. The beneficial role of celiprolol in reduction of arterial complications has been described, and the mechanisms may be related to reduction of hemodynamic stress and by upregulation of collagen synthesis via transforming growth factor-β. Case report: A 26-year-old man was referred with long history of serious vascular complication. From early childhood he was prone to spontaneous bruising. At the age of 7, after minor trauma, he had a duodenal hematoma. Hemophilia was ruled out. In 2014, urgent nephrectomy was done because of spontaneous rupture of right renal artery. Calf varicose veins were treated with foam sclerotherapy in 2016. In 2017, urgent femoro-femoral bypass was performed due to spontaneous rupture of the left common iliac artery (CIA) and failure to repair extremely vulnerable CIA wall. Several months later hybrid vascular procedure was done due to spontaneous dissection of right external iliac artery. Early postoperative course was complicated by spontaneous pneumothorax. His physical appearance was also suggestive to vEDS: thin skin, characteristic facial appearance (thin lips, small chin, thin nose, prominent eyes with dark circles), small joints hypermobility. Molecular genetic testing in 2019 confirmed vEDS: our patient is heterozygous for COL3A1c.1149+2_1149+51del. His current medical therapy includes vitamin C and tolerable dose of celiprolol. For the last three years he is without new adverse vascular events. Conclusion: Accurate diagnosis, genetic consulting, avoiding high risk activities and procedures are crucial in patients with vEDS. Endovascular or surgical intervention are mainly reserved for urgent complications of arterial or organ rupture. Celiprolol, a beta blocker with a unique pharmacologic profile, demonstrated a promising role in reduction of vascular complication in vEDS. [ABSTRACT FROM AUTHOR]

Introduction: Klippel-Trenaunay Syndrome (KTS) is rare syndrome characterized by a presence of capillary and venous malformation, limb overgrowth, with or without lymphatic anomalies. KTS is related to mutations in the PIK3CA gene. Complications of KTS include clotting disorder, bleeding, lymphedema, soft tissue infection and pain. Treatment is individualized; it may include endovascular or surgical procedures and supportive care (management of coagulopathy, infection, pain). The use of mammalian target of rapamycin (mTOR) inhibitor sirolimus shows promising results in complex vascular malformations. Case report: We present a 45 years old patient, currently living out of Croatia. Vascular malformation of the left arm was noticed a few months after his birth. During his childhood an angiography of the left arm lead to confirmation of KTS without further specific treatment. During the last 15 years he was undergoing regular hematology controls and treatment of consumptive coagulopathy as complication of KTS. In 2010 at age 35, he suffered a fracture on the left arm, but he was declared inoperable on basis of vascular malformation which extended the healing process. From 2018 further proliferation of vascular malformation was noticed on his left hemithorax. In 2020 he was presented to multidisciplinary vascular team, MR angiography was performed Unfortunately, due to extreme extension of vascular malformation with soft tissue hypertrophy and osseous deformation the patient is not suitable for any surgical or endovascular procedure. We suggested a treatment with sirolimus which is delayed due to patient’s temporary relocation. Genetic panel testing covering PIK3CA gene is in progress. Conclusion: By presenting this case, our objective is to increase the awareness of KTS, related complications and the role of sirolimus which can improve the prognosis of vascular anomalies. Additionally, we wish to emphasize the importance of multidisciplinary vs specialty focused approach in management patients with KTS. [ABSTRACT FROM AUTHOR]

Aim To determine the spectrum and frequency of diseasecausing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods. Methods The study enrolled 306 unrelated patients with childhood-onset, mild-to-profound NSHL referred to Children's Hospital Zagreb for genetic testing between March 2006 and October 2023. The GJB2 variants were analyzed with the multiplex ligation-dependent probe amplification method and Sanger sequencing of the coding region of the GJB2 gene. In 21 patients negative for GJB2 biallelic variants, clinical exome sequencing (CES) was performed. Results Among 234 disease-associated GJB2 alleles detected, 19 were clinically relevant, of which 18 were reported as pathogenic/likely pathogenic. The c.35delG variant accounted for 73.5% of the mutated alleles. More than half of the patients with biallelic GJB2 variants (64/110, 58.2%) were 35delG homozygotes. Seventeen non-GJB2 variants were found in 10 genes (TECTA, NOG, SLC26A4, PCDH15, TMPRSS3, USH2A, GATA3, MYO15A, SOX10, COL2A1) in 11 participants, and 5 variants (in TECTA, NOG, PCDH15, and SOX10) were novel (29.4%). Conclusion We were able to elucidate the genetic cause of hearing loss in 121 patients, with an overall diagnostic rate of 39.5%. The c.35delG was the most common variant. CES allowed us to diagnose almost half of the patients with HL; to distinguish NSHL from the syndromic form of HL in cases where the phenotype was unclear or where symptoms were absent from an early age; and to discover novel variants. [ABSTRACT FROM AUTHOR]

Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia in the neonatal and early infancy periods. Althought the disease is relatively rare with incidence of about 1:25 000-50 000 live births, the importance of the disease should not be underestimated. Namely, prompt recognition and management of patients with CHI is essential, if permanent neurological impairment is to be avoided. CHI is caused by mutations in one of the 7 genes involved in the regulation of insulin secretion in pancreatic beta-cells. It is important to introduce specific medical therapy as soon as diagnosis is established. Severe, neonatal forms of CHI are often resistant to medications, thus they require surgical procedure. The preoperative genetic testing and scintigraphy are indicated to distinguish histological subtypes of the disease (focal vs. diffuse CHI). Patients with focal disease are usually cured after pancreatic resection, while diffuse disease has much worse prognosis. This manuscript offers novel insights into CHI and emphasizes the role of early diagnosis as crucial for succesful treatment that was recently enriched with novel options.

Vitamin B12 (cobalamin) has two active forms, adenosylcobalamin and methylcobalamin which have a key role in two important metabolic pathways in humans and their deficiency is responsible for clinical problems. Cobalamin is essential during whole life, but its sufficient amount is extra important in fetal and neonatal period, when it is essential for normal child growth and development as well as for normal development of the central nervous system. Because of very complex transport and metabolism, its deficiency can be manifested in numerous congenital and acquired disorders. Vitamin B12 deficiency mostly has non-specific clinical features, it carries a great risk of permanent consequences, but most frequently it is easily curable if diagnosed on time. In Croatia cobalamin deficiency in children has been diagnosed too rarely. Accordingly, the aim of this paper is to point to the recently gained knowledge on cobalamin metabolism, present typical case reports and to provide guidelines for rapid and proper diagnostic and therapeutic approach.