Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.

Bartter syndrome (BS) refers to a group of hereditary kidney disorders. One antenatal form is Bartter syndrome type 1 (BS1), caused by pathogenic variants in the SLC12A1 gene. We report a case of BS1 presenting with severe polyhydramnios. The fetus was found to carry three pathogenic variants of SLC12A1, leading to the antenatal diagnosis of BS1 and its prompt management. At age 18 days, clinical conditions were complicated by the onset of sepsis requiring supportive measures as well as steroid and antibiotic therapy. Any newborn with an antenatal history of polyhydramnios or postnatal polyuria should be suspected of having BS, since delayed diagnosis may lead to rapid renal failure.

Ovotoxicity of smoking and impact on AMH levels: a pilot study.

OBJECTIVE: Our study aims to analyze the correlation between the decrease of ovarian reserve and lower oocyte quality produced by the follicle associated with use of tobacco. In particular, the study analyzed the potential effects of cigarette smoking on hormonal dosages in infertile patients and patients with recurrent miscarriages. PATIENTS AND METHODS: This retrospective study included 61 women with a history of infertility and recurrent miscarriage between March 2016 and March 2019 selected at the clinic of poly-abortivity and infertility at the ASL Roma 2 - Department of Obstetrics and Gynecology, "S. Eugenio" Hospital. Patients' medical history (familiar, physiological and pathological with particular attention to smoking habits and nutrition), the obstetric history, gynecological examination and ultrasound were recorded. The serum concentration of FSH, AMH, Inhibin B were examined between the second and third day of the period. RESULTS: A total of 61 patients between 25 and 43 years of age admitted into our clinic were identified; 42 patients with a history of recurrent abortion (more than two abortions) and 19 patients with a history of infertility were selected. A total of 31 non-smokers women (50.82%) (G1) and 30 (49.18%) (G2) smokers were included. No differences were detected between the two groups under examination; the parameter that did appear discordant is the AMH value; this value scored higher in non-smokers than in smokers. Specifically, in smoker patients with recurrent abortions. CONCLUSIONS: The connection between nicotine, combustion material, and oocyte quality is an important and controversial research topic. Further studies are needed to clarify the influence of nicotine and combustion on the ovarian reserve in order to identify the main risk factors.

Emergency Contraception: are the rights to conscience and to reproductive freedom irreconcilable?

Emergency Contraception (EC) has been gaining attention for its controversial nature, from the ethical, moral and religious perspectives. Objecting health professionals feel that the implementation of certain procedures or the prescription of some drugs would engender a conflict of conscience. That is also true in the context of reproductive medicine and not only limited to EC, but including abortion and some medically-assisted procreation procedures; all such procedures have created a rift between sexuality and procreation that has substantial ethical complexities. Provided that respect for conscience is essential, and codified in many national and international statutes, any refusal to provide services or medication should be limited if it might negatively affect a patient's health, is based on scientific misinformation, or could bring about inequalities of any kind. First and foremost, any imposition of religious or moral beliefs on patients should not be countenanced. In fact, any form of conscientious objection that could harm patient well-being should be allowed only if the fundamental duty towards patients can be effectively discharged. The right to thorough and unbiased information is crucial so as to enable patients to make well-informed decisions. Moreover, as the WHO has remarked, access to safe and legal reproductive services should be fostered particularly in at-risk, resource-poor areas.

The potential role of magnetic resonance brain relaxometry in veterinary medicine: a preliminary study.

Magnetic Resonance (MR) is a non-invasive modality of choice for the evaluation of brain morphology, with superior performance as compared to other techniques. However, MR images are typically assessed qualitatively, thus relying on the experience of the involved radiologist. This may lead to errors of interpretation in the presence of subtle alterations and does not exploit the full potential of this technique as a quantitative diagnostic tool. To this end Magnetic Resonance Relaxometry (MRR), which is able to quantitively characterize the tissues under investigation through their relaxation rates, seems extremely promising. Many studies assessed the feasibility of relaxometry as a diagnostic tool in human brain disorders, with the most promising results obtained in the evaluation of neurodegenerative diseases and in the oncologic field. However, despite such extensive literature in human medicine, due to the lack of standardized protocols and the need of high-field MRI scanners, to date few studies have been performed on companion animals. In this work, first we describe relaxometry applications in human neuropathology and their possible extension to companion animals both in the experimental and clinical fields. Then, we present two experiments performed on a typical standard clinical scanner operating at 0.25 T to show that, despite the low field intensity, this technique may be promising even in the clinical setup. We tested the relaxometry protocol in a phantom study and then applied it to a real clinical case study. The results showed that this protocol used on a phantom led to a higher contrast, as compared to the standard approach. Furthermore, when applied to a real case study, this protocol revealed brain lesions undetected by the standard technique which were confirmed by a histopathological examination. These preliminary results are encouraging and support the development of this approach as an advanced diagnostic tool even in a clinical setting where low field MRI scanners are typically employed.

Androgen insensitivity syndrome.

OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it. MATERIALS AND METHODS: We searched PubMed with a larger emphasis on the physiology, genetics and current management of AIS. RESULTS: AIS is an X-linked recessive Disorder of Sex Development (DSD). It is caused by mutations of the Androgen Receptor, and their large amount and heterogeneity (missense and nonsense mutations, splicing variants, deletions, and insertions) are responsible for the wide spectrum of possible phenotypes of patients, divided into Partial AIS (PAIS) and Complete AIS (CAIS). Once the clinical and laboratory investigations have laid the foundation for a diagnostic hypothesis, it is important to identify the actual karyotype of the individual and search for the mutation in the Androgen Receptor to diagnose with certainty the syndrome. Alternatively, in the absence of such evidence, the diagnosis should more properly be an AIS-like condition, which we describe as well in our report. CONCLUSIONS: The management of this DSD is based on pharmacotherapies, surgery and psychological support: all of them must be directed to facilitate the patient's life, considering his/her sexual identity.

Medical advancements: emergency contraception (EC). Medico-legal implications of EC on adolescents.

The article's main focus is documenting what the best options are in order to make sure that minors are allowed to play a key role in the management of issues arising from the use of emergency contraception. In that regard, there is a lack of clean-cut legislative measures and, although there are several legal and ethical norms designed to get parents or legal guardians involved in such decisions, there seems to be an increasingly widespread tendency to give weight to the minor's will, thus acknowledging her decision-making capacity. Lastly, the paper's authors undertake a thorough examination as to what the duties of doctors are, and the measures that need to be put in place in order to safeguard the minor patients' conditions. They arrive at the conclusion that emergency contraception is suitable for minors even in absence of the stated consent from their parents or guardians, but it is of utmost importance to implement adequate measures aimed at the provision of proper care, prevention and education.

Vesicoureteral reflux in infants: what do we know about the gender prevalence by age?

OBJECTIVE: Vesicoureteral reflux (VUR) affects up to 1% of Caucasian children. Primary VUR is characterized by failure of the ureterovesicular junction to prevent urine from traveling in a retrograde fashion from the bladder to the ureters and the kidneys. Several reports in the literature describe the prevalence of this condition in pediatric patients; overall, VUR affects more males during infancy and with higher grades. However, a thorough consideration of these articles reveals important contradictions regarding the prevalence by gender and age. We analyzed those contradictions and suggested a possible explanation based on our single center experience with this patient group. In particular, for the age interval 0-2 years: we have found that (1) VUR mostly affects boys; (2) the male/female ratio steadily declines over time; (3) the unequal prevalence between males and females essentially disappears when children reach the age of two years. CONCLUSIONS: The natural history of VUR in infant boys differs from that of infant girls, and therefore requires a gender-specific approach. Available data support the need to redefine the categorization and clinical guidelines for this disease.

2014-2017. How medically assisted reproduction changed in Italy. A short comparative synthesis with European countries.

More than ten years after law n. 40 of February 19, 2004 became effective, regulation on medically assisted reproduction has dramatically changed outlook. The authors report on the steps that led to these changes through Courts' rulings, the Supreme Court's verdicts and the European Court of Human Rights' decisions, as well as ministerial regulations and guidelines concerning medically assisted reproduction. The aforementioned jurisprudential evolution was set to reach a new balance between the embryo's right to its own dignity and the woman's right to health and freedom of self-determination in reproduction. No court ruling denies that embryos have also to be safeguarded. In fact, there are still numerous prohibitions, including using embryos for experimental purposes. Judges aim primarily at avoiding that embryos' rights overcome the right to parenthood. The authors review the legislation of the various European countries: some have adopted a legislation to regulate medically assisted reproduction, while others have developed in this field some recommendations or guidelines. This is why they call for enactment of a European law governing the implementation/operational methods of medically assisted reproduction in order to avoid the scourge of procreative tourism to countries that have a more permissive law.

Relaxant effect of proton pump inhibitors on in vitro myometrium from pregnant women.

AIM: In this study we investigate in in vitro myometrial tissue samples of pregnant women: (a) the effects of proton pomp inhibitors (PPIs) (omeprazole, esomeprazole, pantoprazole, lansoprazole and rabeprazole) on spontaneous contractions; (b) the muscle-relaxant efficacy of the most active PPI considered (pantoprazole) in comparison with that of other known tocolytics (nifedipine, atosiban, MgSO4, isoxsuprine); (c) the effect of pantoprazole on contractions induced by calcium (Ca(++)), KCl, oxytocin and prostaglandin (PGE2); (d) the possible mediators of pantoprazole relaxant effect. METHODS: Organ bath studies were performed on myometrial tissue samples (40×10×10 mm) from pregnant women (38-42 weeks of gestational age) undergoing elective caesarian section. RESULTS: All the PPIs studied reduce the spontaneous contraction of the myometrial smooth muscle. Pantoprazole is the most effective and most potent inhibitor among those analyzed. Pantoprazole also reduces the contractions induced by Ca(++), KCl, oxytocin and PGE2. Neither NO, nor PGs, or the activation of Ca(++)-dependent K(+) currents mediate the muscle-relaxant effect of this PPI. CONCLUSION: These data, together with the fact that PPIs almost do not present side effects, suggest that these drugs can offer new therapeutic strategies for preterm delivery. Undoubtedly, further investigations and clinical studies are necessary before adding PPIs to the list of drugs available for the treatment of preterm delivery.

[Role of beta-glucan in the treatment of recurrent candidiasis and HPV-correlated lesions and reparative process of epidermis]. / Beta-glucano e terapia delle candidosi recidivanti e delle disepitelizzazioni cutanee iatrogene.

AIM: The aim of the study was to examine the effects of beta-glucan treatment in women with recurrent vulvar candidiasis or previously treated with diathermocoagulation (DTC) for vulvar lesions caused by human papillomavirus (HPV) infection. METHODS: From January to March 2008, 23 women with a history of recurrent candidiasis and 209 women who underwent to DTC for HPV-correlated vulvar lesions were recruited at the Department of Obstetrics and Gynaeco-logy of San Camillo-Forlanini Hospital of Rome. The two groups were treated with two cycles of a daily topical application of beta-glucan for 15 consecutive days with a suspension of 20 days. The effects of beta-glucan were analyzed at the 1st and the 3rd month from the start of the therapy. RESULTS: A total of 209 women, 21 with recurrent candidiasis and 188 who underwent to DTC for HPV-correlated lesions, completed the study. After the first month of treatment we not found any evidence of disease in both groups; otherwise we observed, a month after the term of the therapy, 5% and 3% of recurrence of candidiasis or lesions secondary to HPV infection, respectively, even if with low grade. CONCLUSIONS: Our results demonstrate the efficacy of beta-glucan treatment for recurrent candidiasis, HPV-correlated lesions and in the reparative process of epidermis.