The Impact of the Main Negative Socio-Economic Factors on Female Fertility

Ţarcă, Viorel; Ţarcă, Elena; Luca, Florin-Alexandru

doi:10.3390/healthcare10040734

Cited by 15 publications

(13 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We would argue that neonatal screening of inborn error of metabolism should be expanded based on demographic, racial, and ethnic criteria, in order to prevent premature deaths and reach an acceptable level of a costs/benefit ratio [ 25 ]. In establishing screening programs, accessibility to medical services should be considered [ 26 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Mîndru,

Țarcă,

Braha

et al. 2024

Diagnostics

Self Cite

View full text Add to dashboard Cite

Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to β-galactosidase deficiency and subsequently to the accumulation of monosialotetrahexosylganglioside (GM1) in the brain and other organs. In total, two diseases have been linked to this gene mutation: Morquio type B and Gangliosidosis. The most frequent clinical manifestations include dysmorphic facial features, nervous and skeletal systems abnormalities, hepatosplenomegaly, and cardiomyopathies. The correct diagnosis of GM1 is a challenge due to the overlapping clinical manifestation between this disease and others, especially in infants. Therefore, in the current study we present the case of a 3-month-old male infant, admitted with signs and symptoms of respiratory distress alongside rapid progressive heart failure, with minimal neurologic and skeletal abnormalities, but with cardiovascular structural malformations. The atypical clinical presentation raised great difficulties for our diagnostic team. Unfortunately, the diagnostic of GM1 was made postmortem based on the DBS test and we were able to correlate the genotype with the unusual phenotypic findings.

show abstract

Section: Discussionmentioning

confidence: 99%

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Mîndru,

Țarcă,

Braha

et al. 2024

Diagnostics

Self Cite

View full text Add to dashboard Cite

show abstract

“…Adolescents with unusual diseases may face challenges different from those with frequent medical disorders, especially if they come from disadvantaged social backgrounds or disorganized families [ 9 , 21 ]. The clinical approach of the medical multidisciplinary team involved should help the patient in managing her medical, surgical, and social situations [ 9 , 22 ].…”

Section: Discussionmentioning

confidence: 99%

Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1

et al. 2022

Self Cite

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene NF1 (17q11.2), predisposing affected subjects to a variety of benign (neurofibromas and plexiform neurofibromas) and malignant tumors. The lack of the NF1-neurofibromin gene product can cause uncontrolled cell proliferation in the central or peripheral nervous system and multisystemic involvement, and so the disease includes a heterogeneous group of clinical manifestations. Ganglioneuromas are benign tumors developing from the neural crest cells of the autonomic nervous system, considered to be part of neuroblastic tumors. Bladder localization is extremely rare in adults, and only three such cases were reported in children so far. The aim of our study, in addition to a brief review of the literature of these pathologies, is to bring to your attention the case of a sixteen year old patient with a very rare association of NF1 and bladder ganglioneuroma, who presented at the hospital with gross hematuria. Since bladder ganglioneuroma is a rare pathological condition, the differential diagnosis is difficult and imaging investigations and pathological investigations are the ones that elucidate this disease. The clinical approach of the medical multidisciplinary team involved should help the patient in managing her medical and surgical situation.

show abstract

“…1 , 3 As fertility-sparing procedures are a priority in a constantly aging society, with more and more women being infertile, every attempt to improve our knowledge concerning this topic is of great importance. 12 , 13 However, ovarian preservation rates decrease with the size of the tumor and many studies indicate that oncologic treatment, including chemotherapy and radiotherapy, increases infertility. 14 This is why it is crucial to diagnose these lesions in their early stages.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis Difficulties and Minimally Invasive Treatment for Ovarian Masses in Adolescents

Ţarcă¹,

Trandafir²,

Cojocaru³

et al. 2022

IJWH

Self Cite

View full text Add to dashboard Cite

About 1% of childhood tumors can be malignant ovarian tumors and differential diagnosis with benign ones is sometimes difficult before surgery. Concerning the management of such tumors in adolescents for which future fertility is a concern, there is specific interest in their malignant potential and the possible use of ovarian-sparing operative techniques, as well the suitability of chemotherapy. To exemplify the difficulties of preoperative differential diagnosis, personalized approach and the difficulties of deciding to preserve the affected ovary, we report a rare case of a 14-year-old female adolescent with a growing abdominal painless mass and without any other chronic diseases. After physical examination and imaging investigations, laparoscopic surgical procedure is performed, the peritoneal cavity is explored and the well-delimited gigantic tumor is removed. Considering the normally looking pelvis and absence of adenopathy, as well as the patient’s age and wish to have children, both ovaries are preserved. Laparoscopy has become the gold standard in the management of this condition, although there are few studies that report this approach in children; the differential diagnosis between a benign and a malignant tumor cannot be established exactly until after the histological examination, which revealed in our case a cystic teratoma with mature tissues. A better understanding of clinical features and evolution of giant ovarian masses in adolescents could help clinicians better diagnose and treat such lesions.

show abstract

The Impact of the Main Negative Socio-Economic Factors on Female Fertility

Cited by 15 publications

References 29 publications

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1

Diagnosis Difficulties and Minimally Invasive Treatment for Ovarian Masses in Adolescents

Contact Info

Product

Resources

About