Publications by authors named "Laura-Mihaela Trandafir"

Diabetes is a complex condition with a rising global incidence, and its impact is equally evident in pediatric practice. Regardless of whether we are dealing with type 1 or type 2 diabetes, the development of complications following the onset of the disease is inevitable. Consequently, contemporary medicine must concentrate on understanding the pathophysiological mechanisms driving systemic decline and on finding ways to address them.

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The metabolic syndrome, made up of the sum of the entities that define it (obesity, hypertension, dyslipidemias and non-alcoholic hepatic steatosis) has gained an important place in the research of the last decades. This aspect is mainly due to the complexity of management in pediatric practice. The main directions in his approach therefore bring together the concern of counteracting the noise or systemic, of the multiple intercurrents at the physiopathological level, as well as the negative imprint exerted on the quality of life.

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Background: Vitamin D plays an important role in maintaining bone health with numerous benefits for extraskeletal health as well.

Objectives: We aimed to assess the prevalence of vitamin D deficiency in children (0-18 years old) in a tertiary hospital in Romania between August 2019 and January 2024 and to investigate the role of adequate supplementation in this vulnerable population.

Methods: The serum 25(OH)D levels were measured using a chemiluminescence binding assay.

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Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an isolated manifestation or can also be associated with systemic, extra-aortic manifestations (syndromic HTADs). Along with the development of molecular testing technologies, important progress has been made in deciphering the heterogeneous etiology of HTADs.

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Celiac disease (CeD) is an enteropathy caused by the complex interaction between genetic, environmental, and individual immunological factors. Besides the hallmark of intestinal mucosal damage, CeD is a systemic disorder extending beyond the gastrointestinal tract and impacting various other organs, causing extraintestinal and atypical symptoms. The association between CeD and liver damage has been classified into three main categories: mild and asymptomatic liver injury, autoimmune liver injury, and liver failure.

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: Liver cirrhosis presents significant challenges in the pediatric population due to a complex interplay of etiological factors, clinical manifestations, and limited therapeutic options. The leading contributors to cirrhosis among pediatric patients are chronic cholestasis, metabolic disorders present from birth, and long-term hepatitis. : Our narrative review aimed to synthesize literature data on the etiology, clinical picture, diagnostic techniques, optimal management of complications, and timely transplantation.

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Maturity-onset diabetes of the young (MODY) is part of the heterogeneous group of monogenic diabetes (MD) characterized by the non-immune dysfunction of pancreatic β-cells. The diagnosis of MODY still remains a challenge for clinicians, with many cases being misdiagnosed as type 1 or type 2 diabetes mellitus (T1DM/T2DM), and over 80% of cases remaining undiagnosed. With the introduction of modern technologies, important progress has been made in deciphering the molecular mechanisms and heterogeneous etiology of MD, including MODY.

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Article Synopsis
  • The management of neonates with meconium ileus (MI) and cystic fibrosis (CF) varies widely across different countries and lacks standardization, prompting a systematic review to analyze recent data.
  • A total of 566 publications were reviewed, but only 8 met the inclusion criteria focused on managing MI in neonates, highlighting the importance of prenatal predictors for surgical outcomes.
  • Findings suggest that conservative treatment can work in some cases, but there’s insufficient robust research on surgical protocols for complicated MI, with reoperation rates of 18%-38% and a variable mortality rate of 0%-8%.
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Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). In 1949, it's been identified as a monogenic disease and was thought to primarily affect individuals of Northern European descent. It was the most prevalent autosomal recessive disease that shortens life.

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Article Synopsis
  • - Congenital hyperinsulinism (CHI) is a rare disorder primarily affecting glucose metabolism, leading to severe hypoglycemia, especially in newborns and young children; it often results from mutations in genes related to ATP-sensitive potassium channels.
  • - In two case studies, distinct genetic mutations in patients with early-onset hyperinsulinemic hypoglycemia showed varying clinical presentations: one with a severe diffuse form linked to a homozygous mutation, and the other with a focal form linked to a heterozygous mutation.
  • - The importance of molecular genetic testing is highlighted for diagnosing and managing CHI, as it can guide treatment options and emphasize the need for genetic counseling for affected families.
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Viral infections have always been considered a threat to global health, with numerous outbreaks across time. Despite the relative recent experience with coronavirus-associated diseases such as severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS), severe acute respiratory syndrome-2's (SARS-CoV-2) continuous evolution displays a different behavior. With a tropism for both respiratory and digestive mucosa, coronavirus disease 2019 (COVID-19) and inflammatory bowel disease (IBD) seem to share a particular common background.

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Recent research has generated awareness of the existence of various pathophysiological pathways that contribute to the development of chronic diseases; thus, pro-oxidative factors have been accepted as significant contributors to the emergence of a wide range of diseases, from inflammatory to malignant. Redox homeostasis is especially crucial in liver pathology, as disturbances at this level have been linked to a variety of chronic diseases. Hepatitis is an umbrella term used to describe liver inflammation, which is the foundation of this disease regardless of its cause.

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The gut microbiota is emerging as an important contributor to the homeostasis of the human body through its involvement in nutrition and metabolism, protection against pathogens, and the development and modulation of the immune system. It has therefore become an important research topic in recent decades. Although the association between intestinal dysbiosis and numerous digestive pathologies has been thoroughly researched, its involvement in pancreatic diseases constitutes a novelty in the specialized literature.

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Hemangiomas are vascular tumors resulting from the proliferation of endothelial-like cells; they are the most common childhood tumors, affecting approximately 5-10% of newborns and infants. Besides hemangiomas, which are definitely benign tumors despite their overgrowth potential, there are other vascular tumors like hemangioendotheliomas, which may display intermediate characteristics between benign hemangiomas and highly malignant angiosarcomas. Standard therapy may be constricted by serious adverse effects, high cost, or traumatic influence.

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This paper delineates several aspects of cystic fibrosis-related diabetes (CFRD)-a common complication of cystic fibrosis (CF). CFRD exhibits a predilection for older individuals with CF, yet it also extends its influence on children and adolescents. Scientific insights postulate a potential link between CFRD and the aberrant mucus production within the pancreas, thereby culminating in pancreatic insufficiency.

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(1) Background: Familial hypercholesterolemia (FH) is a genetic disease that has autosomal dominant inheritance, being characterized by increased levels of low-density lipoproteins (LDLs) due to a decreased clearance of the circulant LDLs. Alimentation is a key factor in patients with FH. Implementing a restrictive diet may have a significant impact on their quality of life, besides the social and environmental factors.

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The human intestinal microbiota is a highly intricate structure with a crucial role in promoting health and preventing disease. It consists of diverse microbial communities that inhabit the gut and contribute to essential functions such as food digestion, nutrient synthesis, and immune system development. The composition and function of the gut microbiota are influenced by a variety of factors, including diet, host genetics, and environmental features.

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Article Synopsis
  • * Advances in molecular genetics and genome analysis have improved our understanding of the genetic factors influencing lipid metabolism disorders related to MetS, revealing a mix of monogenic and complex traits.
  • * Future research aims to identify new genetic factors and develop targeted therapies, while also utilizing polygenic risk scores to pinpoint individuals at higher risk of atherogenic dyslipidemia for personalized prevention and treatment.
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Article Synopsis
  • - Skin cancers, notably melanoma, basal cell carcinoma, and squamous cell carcinoma, necessitate a team-based treatment strategy, as new guidelines highlight advancements in managing these diseases.
  • - Melanoma shows higher mortality rates in Eastern Europe, emphasizing the need for increased prevention and detection efforts in that region, while BCC and cSCC remain the most prevalent and continue to rise in incidence.
  • - Treatment options vary, with sebaceous carcinoma requiring early surgical intervention like Mohs micrographic surgery, and primary cutaneous lymphomas demanding distinct management approaches, underscoring the importance of specialized care in skin cancer treatment.
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Alarming statistics show that the number of people affected by excessive weight has surpassed 2 billion, representing approximately 30% of the world's population. The aim of this review is to provide a comprehensive overview of one of the most serious public health problems, considering that obesity requires an integrative approach that takes into account its complex etiology, including genetic, environmental, and lifestyle factors. Only an understanding of the connections between the many contributors to obesity and the synergy between treatment interventions can ensure satisfactory outcomes in reducing obesity.

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The European Society for Medical Oncology experts have identified the main components of the long-term management of oncological patients. These include early diagnosis through population screening and periodic control of already diagnosed patients to identify relapses, recurrences, and other associated neoplasms. There are no generally accepted international guidelines for the long-term monitoring of patients with skin neoplasms (nonmelanoma skin cancer, malignant melanoma, precancerous-high-risk skin lesions).

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Celiac disease (CD) is a multifactorial disorder, defined by a complex interplay of genetic and environmental factors. Both genetic predisposition and dietary exposure to gluten are essential factors in triggering CD. However, there is proof that their presence is necessary, but not sufficient, for disease development.

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Sarcoidosis is a non-necrotizing granulomatous inflammatory multisystemic disorder of unknown etiology. In children, as in adults, it can involve a few or all organ systems to a varying extent and degree, entailing multisystemic manifestations. Kidney involvement in pediatric-onset adult-type sarcoidosis is rare, with a wide range of renal manifestations, most of them related to calcium metabolism.

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Unlabelled: Abdominal wall defects are serious birth defects, with long periods of hospitalization and significant costs to the medical system. Nosocomial infection (NI) may be an additional risk factor that aggravates the evolution of newborns with such malformations.

Methods: in order to analyze the factors that may lead to the occurrence of NI, we performed a retrospective study over a period of thirty-two years (1990-2021), in a tertiary children's hospital; 302 neonates with omphalocele and gastroschisis were eligible for the study.

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Diamond-Blackfan anemia is a rare (6-7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mutation of the gene causing Diamond-Blackfan anemia who additionally suffers from severe sinus bradycardia. The infant was diagnosed with this condition at the age of four months; at the age of 6 months, she presents with severe anemia causing hypoxia which, in turn, caused severe dyspnea and polypnea, which had mixed causes (hypoxic and infectious) as the child was febrile.

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