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1.
Medicine (Baltimore) ; 103(24): e38554, 2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38875415

RESUMEN

A prospective cohort study investigated the effectiveness of platelet-rich plasma (PRP) infusion for refractory thin endometrium in 38 infertile patients. Patients showed significant improvement in endometrial thickness post-PRP injection, leading to successful implantation and pregnancy. The study revealed a negative correlation between antimullerian hormone (AMH) levels and the need for PRP interventions, suggesting higher ovarian reserve may reduce the necessity for repeated treatments. This implies AMH levels could serve as a prognostic indicator for treatment outcomes, aiding clinicians in optimizing protocols and reducing patient burden. Further research is needed to confirm these findings in larger and more diverse populations, along with exploring long-term reproductive success rates post-PRP treatment.


Asunto(s)
Endometrio , Infertilidad Femenina , Plasma Rico en Plaquetas , Humanos , Femenino , Estudios Prospectivos , Adulto , Infertilidad Femenina/terapia , Infertilidad Femenina/sangre , Hormona Antimülleriana/sangre , Embarazo , Reserva Ovárica , Resultado del Tratamiento
2.
Ann Med Surg (Lond) ; 85(2): 252-256, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36845789

RESUMEN

Holoprosencephaly is a rare and possibly fatal neural tube defect represented by complete or partial forebrain noncleavage. It can be classified into four types: alobar, semilobar, lobar, and middle interhemispheric fusion variant. It is usually diagnosed through prenatal ultrasound or after birth by visually observing the morphological abnormalities and/or through neurological screening. Potential causes include maternal diabetes, alcoholism, infections during pregnancy, drugs, and genetic causes. Case presentation: Herein, we report two cases of holoprosencephaly's rarest manifestations, albeit cebocephaly in the first case, and cyclopia with a probocis in the second. Cebocephaly, (hypotelorism with a single nostril and a blind-ended nose) was present in the first case; a Syrian newborn girl for a 41-year-old mother who works in collecting Capparis spinosa, and cyclopia with skull vault absence and posterior encephalocele in the second case; a Syrian newborn girl for a 26-year-old mother, the parents here where second-degree relatives. Conclusions: Early diagnosis through ultrasound is preferred in such cases and management options should be assessed and discussed with the parents due to poor prognosis. Adherence to pregnancy follow-up programs is essential to detect malformations and disorders as early as possible, especially when risk factors exist. Also, this paper may suggest a potential correlation between C. spinosa and holoprosencephaly. Therefore, we suggest that more research should be done.

3.
J Med Case Rep ; 16(1): 304, 2022 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-35902876

RESUMEN

INTRODUCTION: Triple A syndrome is a very uncommon disease marked by a triad of adrenocorticotrophic hormone (ACTH)-resistant features: adrenal insufficiency, alacrimia, and achalasia. It presents in several clinical forms with undetermined incidence and shows an autosomal pattern of inheritance. It is caused by a variety of mutations in the AAAS genes which encode a protein of unknown function called ALADIN. Diagnosis depends on clinical manifestations, laboratory test results, imaging and endoscopic findings, and Schirmer's test. The treatment includes artificial tears, glucocorticoid replacement therapy, and treatment of achalasia. CASE PRESENTATION: A 12-year-old Syrian girl was referred to Damascus University's Children's Hospital for recurrent pulmonary infection. Her mother had noted an absence of tears when crying since birth, diffused pigmentations since birth, especially on the cheeks and genitals, recurrent vomiting of both solid and liquid foods, and recurrent exacerbations of bronchitis and recurrent pneumonia. ACTH and blood cortisol levels indicated an adrenal insufficiency, chest computed tomography and barium swallow test results indicated achalasia, tear break-up time as well as eye examination indicated alacrimia, which led to the diagnosis of triple A syndrome. Treatment included Heller cardiomyotomy, artificial tears, and hydrocortisone (15-30 mg/m2), as well as continuous observation of ACTH levels. DISCUSSION: Triple A syndrome (which is characterized by the triad of achalasia, alacrima, adrenal insufficiency) is a rare multisystem disease. It has a genetic background and is potentially fatal. This syndrome is often misdiagnosed, especially in regions where it is expected to have a high prevalence rate (regions with documented cases and high rate of consanguinous marriage), This study is the first documentation of triple A syndrome in Syria, a country where consanguineous marriage is common. This syndrome should be kept in mind when a child presents with one or more of its characteristic features.


Asunto(s)
Insuficiencia Suprarrenal , Acalasia del Esófago , Neumonía , Insuficiencia Suprarrenal/diagnóstico , Hormona Adrenocorticotrópica , Niño , Acalasia del Esófago/diagnóstico , Acalasia del Esófago/genética , Acalasia del Esófago/terapia , Femenino , Humanos , Gotas Lubricantes para Ojos , Síndrome
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