29 research outputs found
From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children
No full textBackground: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage. Subtypes A and B are inherited in an autosomal recessive fashion and consist of a genetic defect which affects the sphingomyelin phosphodiesterase 1 gene, leading to residual or lack of enzymatic activity of acid sphingomyelinase (ASM). Materials and Methods: This paper provides a brief history and overview to date of the disease and a comprehensive review of the current literature on ASMD in children, conducted on published papers from the past 10 years. Results: We identified 19 original publications (16 individual case reports and three series of cases—30 patients). The male/female ratio was 1.4. The youngest patient at disease onset was a female newborn with NPD-A. The youngest patient was diagnosed at 4 months. The longest timeframe between onset symptoms and diagnostic moment was 5 years 3 months. A total of nine patients exhibited red cherry macular spots. A total of 13 children exhibited associated lung disease, and four NPD-A patients with pulmonary disease died due to respiratory complications. A total of 11 children exhibited associated growth impairment. Genetic assays were performed in 25 cases (15 homozygous; 9 heterozygous). A total of four children (13.3%) received enzyme replacement therapy (ERT). Therapy outcomes included decreased liver and spleen volumes, improved platelet and leukocytes counts, and body mass index and stature improvement. Conclusions: Sometimes, a small child with a big belly hides a huge dilemma; inherited metabolic disorders are here to challenge clinicians and set the record straight, and genetics is the way of the future in terms of diagnosis and novel treatments. NPD must be considered children with persistent and progressive hepatosplenomegaly and growth failure. Diagnosis requires good clinical skills and access to genetic assays. Since 2022, the FDA has given a green light to a revolutionary enzymatic replacement therapy with human recombinant ASM called Olipudase-alfa. Clinical trial outcomes support its reliability and efficacy in the pediatric population
PEDIATRIC CHRONIC VIRAL HEPATITIS – THERAPEUTIC CONSIDERATIONS
No full textChronic viral hepatitis is a public health issue both worldwide and in Romania, where the prevalence of the
disease is still high. We present the available therapies used for chronic viral hepatitis B treatment in children,
worldwide and in Romania, indications and contraindications of treatment, benefits and disadvantages for each class. The present paper reviews only the treatment options and not profilactic measures for pediatric chronic viral hepatitis B. Currently, in Romania, standard Interferon is the treatment of choice. Entecavir is the only of the nucleotidic/nucleosidic analogues which is approved for children use, but not in those weighting less than 32.6 kg. Tenofovir, Adefovir and Lamivudine are not approved for pediatric chronic viral hepatitis B. Considering the fact that the disease progression is longer when the infection occurs earlier in life, efficient treatment is important for children with chronic viral hepatitis B. The availability of more treatment options provides a chance
for patients who are nonresponsive to first line therapies
MÜNCHAUSEN SYNDROME – A QUESTION OF MEDICAL ETHICS?
No full text“Factitious disorder” or “unnatural, artificial, fake disorders” as Münchausen syndrome (MS) and Münchausen syndrome by proxy (MSBP) represent severe mental disorders in which a person tries to convince those around him/her that he/she or the person depending on him/her is sick, without the purpose of obtaining benefits.
Patients with disorders such as MS or MSBP may arise a series of controversies and appeals from the simple
question of patient status to confidentiality issues, privacy, medical malpractice or participation and involving of the medical team at the suffering of the patient. Recognition of the phenomenon of simulation depends heavily on experience of the physician, but the existence of elements of guidance and personality traits of patients or
parents are important.
Many issues of ethics and medical deontology arise in diagnosis, evolution and treatment of these syndromes,
many becoming subject to medical or legal disputes. The problem is more delicate and involves many consequences in terms of child protection in MSBP, considered the only form of lethal, highly complex mistreatment and abuse. Ethical, medical and ethics issues are different in the two types of diseases, but medical staff involvement and participation in perpetuation of the symptomatology is a common character, much debated.
Despite the controversy, many of these issues remain unresolved and there are no clear guidelines so doctors
can give an appropriate response
Where Reality and Fantasy Collide—Prolonged Fever to Munchausen Syndrome by Proxy
No full textBackground: Munchausen syndrome by proxy (MSBP) or factitious disorder imposed on another (FDIA) is a bizarre psychiatric entity, consisting of the fabrication of symptoms and alteration of laboratory tests by a caregiver. It is considered a serious form of child abuse. Alarm signs are frequent medical visits and strange symptoms that are never objectified during hospitalization. Methods: This case sets a bright light on how difficult the diagnosis and management of FDIA is and the severe consequences this disease has on a defenseless child. Results (Case report): A boy who is 3 years 8 months old first presented to our department in October 2022 for prolonged fever. We ruled out infections, malignancies, and autoimmune diseases. The patient kept coming back once every fortnight for the same reason—fever, every time associating it with something in particular and new—from painful joints to hemorrhagic complaints. Interestingly, with every new visit, the patient’s medical history became more complex. The mother also developed an attachment relationship with the medical staff. During a 4-month period of repeated admissions, the child’s symptoms were never objectified throughout hospitalization, and never consistent with the declared symptoms and test results. When the physician’s attitude changed from empathic to distant, she never came back for check-ups. Conclusions: A pediatrician’s work largely depends on good communication with the parents. When there is no medical explanation for declared symptoms, one might question the merit of the story
Customizing Nutrients: Vitamin D and Iron Deficiencies in Overweight and Obese Children—Insights from a Romanian Study
No full textBackground: Childhood obesity is a public health issue worldwide, recognized as a complex condition associated with multiple deficiencies in nutrients, such as vitamin D deficiency, iron-deficiency anemia, or abnormalities in serum calcium or phosphorus levels, despite an excess caloric intake. Objective: This study aims to investigate the prevalence of these deficiencies in overweight/obese children and to assess the correlation between vitamin D/serum iron levels and body mass index (BMI). Methods: The observational study was conducted on 69 Romanian overweight and obese children, aged 2 to 17, admitted to the Pediatrics Department of “Grigore Alexandrescu” Hospital in Bucharest over a 15-month period. The age- and gender-specific BMI percentiles were used to classify participants into three groups: overweight (≥85th and <95th BMI percentile), obese (≥95th BMI percentile), and severely obese (>120% of 95th BMI percentile). Data analysis focused on identifying the need for screening and targeted treatment in this pediatric population. Results: Hypovitaminosis D (defined as a serum level of 25(OH)D < 30 ng/mL) prevalence was significantly higher in the severe obesity category (71.5%) compared to the obesity (69%) and overweight (61.5%) groups. Iron deficiency and iron-deficiency anemia were both more prevalent in overweight children, with rates of 50% and 38.5%, respectively. Negative moderate correlations were found both between serum 25-hydroxyvitamin D levels and children’s age (r = −0.444, p-value < 0.0001), as well as between serum 25(OH)D levels and BMI (r = −0.31, p = 0.015), with no statistically significant correlation between serum iron level and BMI in this cohort (r = −0.02, p > 0.05). Conclusions: Severe obesity could be regarded as an associated factor for vitamin D insufficiency as this is highly prevalent in severely obese children, with 25(OH)D levels decreasing with the increase in BMI. Overweight children demonstrated an increased prevalence of iron deficiency in the overweight category, suggesting that the adipose tissue contributes to chronic inflammation, disrupting iron homeostasis. Given the high prevalence of nutritional deficiencies in this population, implementing systematic screening and treatment programs would be beneficial to prevent long-term adverse outcomes
MUNCHAUSEN SYNDROME BY PROXY – A REAL PEDIATRIC PROBLEM?
No full textMunchausen syndrome and Munchausen by proxy syndrome belong belong to a group of disease called “factitious disorder” and are severe mental disorders having the “end” position for a healthy person to become patient, respectevely to “create” a disease to another person, asking or requiring medical intervention for him/her.
Munchausen syndrome by proxy is rare, but it is diffi cult to be recognized and confi rmed, is a form of abuse,
particularly against children, potentially lethal, often misunderstood. Many methods are used by adults counterfeiters to induce a false child’s condition: poisoning, injury, producing bleeding, infection.
Complaints exposed by the mothers as belonging to the child are not for a personal benefi t, but are justifi ed by
a desire to be a “hero” mothers and to play the role of the people most attached and thoughtful of their child.
Diagnosis should include evaluation of the child, parents and family and is based on suggestive elements: child
with multiple health problems that do not respond to treatment or recur under proper therapy, laboratory investigations discrepancies, child’s signs and symptoms disappear in the absence of the parent.
The false disease of the child, intentionally distorted described by adult, do not realy affect him/her, but the diagnostic process and medical treatment can cause pain and discomfort. Ethical and legal issues associated
with MSBP involves healthcare professionals by the medical consequences on the child as a result of false
complains described by the parent.
Education of patient, family and medical personnel is a very important step in the recognition, prevention and
treatment of MSBP
Comparative analysis of adaptation in adaptive educational hypermedia and IMS-learning design
No full textCurrently, Adaptive Educational Hypermedia (AEH) and IMS Learning Design (IMS-LD) are separate research areas, with little shared knowledge between them. Their goal, however, is the same: to design, author and implement the best possible learning experience for the learner. This paper addresses the issue of differences and similarities between AEH and IMS-LD with regard to knowledge representation and adaptation and investigates, generically, as well as for the specific case of the Layered AHS Authoring-Model and Operators (LAOS) framework, how these paradigms can benefit from each other
CORRELATION BETWEEN BMI, DENTAL CARIES AND SALIVARY BUFFER CAPACITY IN A SAMPLE OF CHILDREN FROM MURES COUNTY, ROMANIA
No full textBoth dental caries and malnutrition in children are serious public health problems with diet as a common risk factor. The aim of this study is to investigate the relationship between dental caries, Body Mass Index (BMI) and salivary buffer capacity in children. Materials and Method: The first part of the study was conducted on 144 children, aged between 6 and 12 years, examined in the Pediatric Dentistry Department of UMF Tirgu Mures. Nutritional status was assessed using BMI in accordance with the recommendations of the World Health Organisation. The sample was divided into four groups based on BMI: underweight, normal weight, overweight and obese for age. Dental caries were evaluated using the DMFT (Decayed Missing Filled Teeth) index for permanent dentition and dmft (decayed missing filled teeth) for deciduous dentition. Salivary buffer capacity was recorded with CRT Buffer Strips from Ivoclar Vivadent. Results: The mean age of the sample was 9.11 ± 0.19 years, the mean dmft was 2.58 ± 0.26 and mean DMFT 1.76 ± 0.2. The underweight group presented a significantly higher dmft index compared to the other groups. A negative correlation between the salivary buffer capacity and the caries index was found. Conclusions: Because the results of this preliminary study show a higher caries incidence in underweight children, the relationship between dental caries and malnutrition should be further investigated. Dentists and physicians treating children should consider malnutrition as a risk factor for dental caries
Hypertriglyceridemia Induced Acute Pancreatitis Caused by a Novel LIPC Gene Variant in a Pediatric Patient
No full textHypertriglyceridemia induced acute pancreatitis is a rare cause of pancreatitis in children. Hepatic lipase deficiency is an extremely rare cause of hypertriglyceridemia, reported in only a few families to date. Hepatic lipase is the enzyme involved in the hydrolysis of triglycerides and phospholipids in remnants of triglyceride-rich lipoproteins that have a role in the conversion of very low density lipoprotein remnants to low density lipoproteins. Hepatic lipase deficiency is inherited in an autosomal recessive pattern. Detection of heterozygous carriers of hepatic lipase mutations remains accidental at the population level, as affected persons with a heterozygous state of hepatic lipase mutation do not display specific lipoprotein abnormalities and also patients with complete hepatic lipase deficiency have inconstant phenotype. The proximal promoter of the LIPC gene consists of four polymorphic sites in complete linkage disequilibrium. Five missense mutations in encoding exons have been described and proved to be responsible for hepatic lipase deficiency to date: S267F, T383M, L334F, A174T, and R186H, affecting the activity and secretion of hepatic lipase. We identified a primary disorder of the lipid metabolism as the cause of the acute episode of pancreatitis in a four years old patient, consisting of hepatic lipase deficiency caused by a novel genetic variant of the LIPC gene, a gross deletion of the genomic region encompassing exon 1. This variant was not previously described in the literature in persons with LIPC-related disorders and its significance is currently uncertain, but in the presented clinical and paraclinical context, it has the characteristics of a pathological variant inducing a hepatic lipase deficiency phenotype
P246 Diagnosing caeliac disease in a romanian paediatric gastroenterology department over three decades
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