Thyroid Diseases and Thyroid Asymptomatic Dysfunction in People Living With HIV.

Thyroid diseases (TDs) and thyroid asymptomatic dysfunctions (TADs) are correlated with Human Immunodeficiency virus (HIV) infection and Acquired ImmunoDeficiency Syndrome (AIDS) as well as many endocrine dysfunctions and dysregulation of hormonal axes. To date, available studies on People Living With HIV (PLWH) affected by thyroid diseases and asymptomatic dysfunctions are few and rather controversial. The purpose of the present non-systematic literature review is to recap the current knowledge on the main features of thyroid dysfunctions and disorders in PLWH. Large cohort studies are needed for a better comprehension of the impact, evolution and treatment of thyroid pathologies in the HIV-infected population.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy between 2016 and 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total of 1,586,578 infants born in Italy were screened between January 2017 and December 2020. For this survey, we collected data from 15 Italian screening laboratories, focusing on the metabolic disorders identified by tandem mass spectrometry (MS/MS) based analysis between January 2019 and December 2020. Aminoacidemias were the most common inborn errors in Italy, and an equal percentage was observed in detecting organic acidemias and mitochondrial fatty acids beta-oxidation defects. Second-tier tests are widely used in most laboratories to reduce false positives. For example, second-tier tests for methylmalonic acid and homocysteine considerably improved the screening of CblC without increasing unnecessary recalls. Finally, the newborn screening allowed us to identify conditions that are mainly secondary to a maternal deficiency. We describe the goals reached since the introduction of the screening in Italy by exchanging knowledge and experiences among the laboratories.

Disfunción sexual en cáncer de mama: Efecto colateral / Sexual dysfunction in breast cancer: A side effect

Introducción: La disfunción sexual femenina (DSF) incluye un grupo de alteraciones en el deseo sexual, excitación, lubricación, satisfacción, orgasmo, y dispareunia, de carácter multifactorial, involucrando tanto procesos orgánicos y psicológicos como socioculturales. Los diversos tratamientos médico-quirúrgicos, tienen impacto en la función sexual. La disfunción sexual femenina afecta la calidad de vida, con una prevalencia de hasta 45-90% en las pacientes con diagnóstico de cáncer de mama. Objetivo: Evaluar la función sexual en mujeres con cáncer de mama, con seguimiento oncológico mayor al año, evaluando el impacto de los diferentes tratamientos médico-quirúrgicos en el índice de función sexual femenina. Material y método: Estudio observacional, descriptivo y transversal, donde se incluyeron 102 pacientes entre agosto 2019 y febrero de 2020 con cáncer de mama en el Hospital Municipal de Oncología María Curie. Como instrumento de medida se utilizó el cuestionario *Índice De Función Sexual Femenina* (FSFI), asociado a una encuesta para la obtención de datos sociodemográficos e información sobre los procedimientos medico-quirúrgicos realizados para el tratamiento del cáncer de mama. Resultados: La media de edad de las pacientes fue 54.86 años (SD 9.19). El 69.6% de ellas habían realizado tratamiento quirúrgico conservador, mientras que el 30.4% estaban mastectomizadas, no evidenciándose diferencias estadísticamente significativas en relación a la disfunción sexual en ambos grupos. Se realizó tratamiento quimioterápico en 69.6% del total de las pacientes y 75.5% hormonoterapia, observándose diferencia en el score FSFI al cotejar el tipo de hormonoterapia recibida. La prevalencia de disfunción sexual en este grupo fue de 82,35%. Los resultados evidenciaron valores bajos en la escala FSFI, siendo la media 19.6, lo que demuestra alteraciones en la función sexual en esta población. Conclusiones: El cáncer de mama posee un impacto multidimensional en la salud sexual de mujeres con cáncer de mama, constituyendo un elemento que influye en la calidad de vida. Los diversos tratamientos médico-quirúrgicos alteran la sexualidad, no pudiendo aún establecerse la relación directa que tienen sobre esta esfera

Introduction: Female sexual dysfunction (FSD) includes a group of alterations in sexual desire, arousal, lubrication, satisfaction, orgasm, and dyspareunia, of multifactorial character, involving organic and psychological as well as sociocultural processes. The various medical-surgical treatments have an impact on sexual function. Female sexual dysfunction affects quality of life, with a prevalence of up to 45-90% in patients diagnosed with breast cancer. Objective: To evaluate sexual function in women with breast cancer, with oncologic followup of more than one year, evaluating the impact of different medical-surgical treatments on the index of female sexual function. Material and method: Observational, descriptive and cross-sectional study, where 102 pa- tients were included between August 2019 and February 2020 with breast cancer at the Maria Curie Municipal Oncology Hospital. As a measurement instrument, the questionnaire *Female Sexual Function Index* (FSFI) was used, associated with a survey to obtain sociodemographic data and information on the medical-surgical procedures performed for the treatment of breast cancer. Results: The mean age of the patients was 54.86 years (SD 9.19). Of these, 69.6% had undergone conservative surgical treatment, while 30.4% were mastectomized, with no statistically significant differences in relation to sexual dysfunction in the two groups. Chemotherapy treatment was performed in 69.6% of the total patients and 75.5% hormone therapy, showing a difference in the FSFI score when comparing the type of hormone therapy received. The prevalence of sexual dysfunction in this group was 82.35%. The re- sults showed low values on the FSFI scale, with a mean of 19.6, which demonstrates alterations in sexual function in this population. Conclusions: Breast cancer has a multidimensional impact on the sexual health of women with breast cancer, constituting an element that influences the quality of life. The various medical-surgical treatments alter sexuality, although the direct relationship they have on this sphere cannot yet be established

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test

Abstract The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for confirmatory tests and resulted negative for both isovaleric acidemia and short/branched chain acyl-CoA dehydrogenase deficiency. In the other 9 cases, the immediate recall was avoided by applying a new second-tier test able to confirm the presence of pivaloylcarnitine. The concentration of C5-acylcarnitine was measured in the days following the suspension of balm application. Abnormal concentrations of C5-acylcarnitine did not seem to be associated with free carnitine deficiency, probably due to the short time of exposure. A direct correlation between balm ingestion and the elevation in pivaloylcarnitine has been demonstrated in 10 adult volunteers. The commercial balm containing a pivalic acid derivative is causal of false-positive results during newborn screening, and it could have the potential to cause secondary carnitine deficiency when used chronically.

Timing of bolus in children with type 1 diabetes using continuous subcutaneous insulin infusion (TiBoDi Study).

BACKGROUND: Continuous subcutaneous insulin infusion is considered a safe and effective way to administer insulin in pediatric patients with type 1 diabetes, but achieving satisfactory and stable glycemic control is difficult. Several factors contribute to control, including fine-tuning the basal infusion rate and bolus timing. We evaluated the most effective timing of a pump-delivered, preprandial bolus in children with type 1 diabetes. METHODS: We assessed the response of 30 children with type 1 diabetes to a standard meal after different timing of a bolus dose. RESULTS: The glucose levels for 3 h after the meal were lower (i.e., closer to the therapeutic target of <140 mg/dL) when the bolus doses were administered 15 min or immediately before the meal, rather than after the meal. However, these differences were not statistically significant, except at the 1-h postprandial time point: bolus just after meal, 177 +/- 71 mg/dL (9.83 +/- 3.94 mmol/L); 15 min before meal, 136 +/- 52 mg/dL (7.55 +/- 2.89 mmol/L) (P = 0.044); and just before meal, 130 +/- 54 mg/dL (7.22 +/- 3.00 mmol/L) (P = 0.024). The area under the curve (AUC) (in mg/min) did not differ significantly with different bolus times, but the SD of the AUC was the lowest with the bolus given 15 min before the meal. CONCLUSIONS: These data support injection of the bolus before, rather than after, eating, even if the patient is hypoglycemic before meals.

Systemic hypertension and proteinuria in childhood chronic renal parenchymal disease: role of antihypertensive drug management.

A variety of chronic kidney diseases tend to progress towards end-stage kidney disease. Progression is largely due to factors unrelated to the initial disease, including systemic hypertension and proteinuria. Drugs that block the renin-angiotensin II-aldosterone system, either ACE inhibitors or angiotensin II receptor antagonists, reduce both BP and proteinuria and appear superior to a more conventional antihypertensive treatment regimen in preventing progression to end-stage kidney disease. The most recent recommendations state that the BP goal in children with chronic kidney disease is the corresponding 90th centile for body height, age, and gender. Since satisfactory BP control is often not achieved, the mnemonic acronym DELTAREPROSI was generated to recall the following tips for the practical management of hypertension and proteinuria in childhood chronic renal parenchymal disease: DEfinition of hypertension and Low blood pressure TArget in REnal disease (90th centile calculated by means of simple formulas), potential of drugs inhibiting the REnin-angiotensin II-aldosterone system in hypertension and PROteinuria, advantages of SImplified treatment regimens and escalating the doses every SIx weeks.

Lateral internal sphincterotomy is superior to topical nitroglycerin for healing chronic anal fissure and does not compromise long-term fecal continence: six-year follow-up of a multicenter, randomized, controlled trial.

PURPOSE: Although there is enthusiasm for nonoperative management of anal fissures, most trials have been of short duration (6-8 weeks) and long-term outcome is unknown. The purpose of this study was to assess long-term outcome in two cohorts of patients who had participated in a randomized, controlled trial to compare the effectiveness of topical nitroglycerin with internal sphincterotomy in the treatment of chronic anal fissure. METHODS: Between February 1997 and October 1998, 82 patients with chronic anal fissure were accrued and randomized to 0.25 percent nitroglycerin ointment t.i.d. or lateral internal sphincterotomy. In 2004, a telephone survey of trial participants was conducted to determine symptom recurrence, the need for further medical and/or surgical treatment, and patient satisfaction. Furthermore, patients were assessed for symptoms of fecal incontinence using the Jorge and Wexner Fecal Incontinence Score and the Fecal Incontinence Quality of Life questionnaire. RESULTS: Overall, 51 of the original 82 patients (62 percent, 27 nitroglycerin, 24 lateral internal sphincterotomy) completed our survey. Mean follow-up was 79 (+/-1) months. Sphincterotomy patients were less likely to have experienced fissure symptoms within the past year (0 vs. 41 percent; P = 0.0004) and were less likely to require subsequent surgical treatment (0 vs. 59 percent; P < 0.0001) than patients treated with nitroglycerin. Patients in the lateral internal sphincterotomy group were more likely to say that they were "very" or "moderately" satisfied with their treatment (100 vs. 56 percent; P = 0.04) and that they would choose the same treatment again (92 vs. 63 percent; P = 0.02) than patients in the nitroglycerin group. Finally, the fecal incontinence and fecal incontinence quality of life scores at six-year follow-up were similar in both groups. CONCLUSIONS: After six years of follow-up, it seems that lateral internal sphincterotomy is a more durable treatment for chronic anal fissure compared with topical nitroglycerin therapy and does not compromise long-term fecal continence. Thus, sphincterotomy continues to be a good treatment for patients with chronic anal fissure.