Balanced Crystalloids Versus Normal Saline in Kidney Transplant Patients: An Updated Systematic Review, Meta-analysis, and Trial Sequential Analysis.

BACKGROUND: The use of balanced crystalloids over normal saline for perioperative fluid management during kidney transplantation and its benefits on acid-base and electrolyte balance along with its influence on postoperative clinical outcomes remains a topic of controversy. Therefore, we conducted this review to assess the impact of balanced solutions compared to normal saline on outcomes for kidney transplant patients. METHODS: We searched MEDLINE, EMBASE, and Cochrane databases for randomized controlled trials (RCTs) comparing balanced lower-chloride solutions to normal saline in renal transplant patients. Our main outcome of interest was delayed graft function (DGF). Additionally, we examined acid-base and electrolyte measurements, along with postoperative renal function. We computed relative risk (RR) using the Mantel-Haenszel test for binary outcomes, and mean difference (MD) for continuous data, and applied DerSimonian and Laird random-effects models to address heterogeneity. Furthermore, we performed a trial sequential analysis (TSA) for all outcomes. RESULTS: Twelve RCTs comprising a total of 1668 patients were included; 832 (49.9%) were assigned to receive balanced solutions. Balanced crystalloids reduced the occurrence of DGF compared to normal saline, with RR of 0.82 (95% confidence interval [CI], 0.71-0.94), P = .005; I² = 0%. The occurrence was 25% (194 of 787) in the balanced crystalloids group and 34% (240 of 701) in the normal saline group. Moreover, our TSA supported the primary outcome result and suggests that the sample size was sufficient for our conclusion. End-of-surgery chloride (MD, -8.80 mEq·L-1; 95% CI, -13.98 to -3.63 mEq.L-1; P < .001), bicarbonate (MD, 2.12 mEq·L-1; 95% CI, 1.02-3.21 mEq·L-1; P < .001), pH (MD, 0.06; 95% CI, 0.04-0.07; P < .001), and base excess (BE) (MD, 2.41 mEq·L-1; 95% CI, 0.88-3.95 mEq·L-1; P = .002) significantly favored the balanced crystalloids groups and the end of surgery potassium (MD, -0.17 mEq·L-1; 95% CI, -0.36 to 0.02 mEq·L-1; P = .07) did not differ between groups. However, creatinine did not differ in the first (MD, -0.06 mg·dL-1; 95% CI, -0.38 to 0.26 mg·dL-1; P = .71) and seventh (MD, -0.06 mg·dL-1; 95% CI, -0.18 to 0.06 mg·dL-1; P = .30) postoperative days nor urine output in the first (MD, -1.12 L; 95% CI, -3.67 to 1.43 L; P = .39) and seventh (MD, -0.01 L; 95% CI, -0.45 to 0.42 L; P = .95) postoperative days. CONCLUSIONS: Balanced lower-chloride solutions significantly reduce the occurrence of DGF and provide an improved acid-base and electrolyte control in patients undergoing kidney transplantation.

Metastatic pituitary neuroendocrine neoplasms: A case report of a malignant prolactinoma.

We report a rare clinical case of a malignant prolactinoma in which the exponential increase of prolactin levels with minimal tumor growth and no response to treatment led to diagnosis of abdominal, thoracic, and vertebral metastases.

Promoting advanced medical services in the framework of 3PM-a proof-of-concept by the "Centro" Region of Portugal.

Multidisciplinary team from three universities based in the "Centro" Region of Portugal developed diverse approaches as parts of a project dedicated to enhancing and expanding Predictive, Preventive, and Personalized Medicine (3PM) in the Region. In a sense, outcomes acted as a proof-of-concept, in that they demonstrated the feasibility, but also the relevance of the approaches. The accomplishments comprise defining a new regional strategy for implementing 3PM within the Region, training of human resources in genomic sequencing, and generating good practices handbooks dedicated to diagnostic testing via next-generation sequencing, to legal and ethical concerns, and to knowledge transfer and entrepreneurship, aimed at increasing literacy on 3PM approaches. Further approaches also included support for entrepreneurship development and start-ups, and diverse and relevant initiatives aimed at increasing literacy relevant to 3PM. Efforts to enhance literacy encompassed citizens across the board, from patients and high school students to health professionals and health students. This focus on empowerment through literacy involved a variety of initiatives, including the creation of an illustrated book on genomics and the production of two theater plays centered on genetics. Additionally, authors stressed that genomic tools are relevant, but they are not the only resources 3PM is based on. Thus, they defend that other initiatives intended to enable citizens to take 3PM should include multi-omics and, having in mind the socio-economic burden of chronic diseases, suboptimal health status approaches in the 3PM framework should also be considered, in order to anticipate medical intervention in the subclinical phase. Supplementary Information: The online version contains supplementary material available at 10.1007/s13167-024-00353-9.

Prophylactic tranexamic acid in Cesarean delivery: an updated meta-analysis with a trial sequential analysis.

PURPOSE: Postpartum hemorrhage (PPH) is a leading cause of maternal mortality worldwide. Although several studies on the prophylactic use of tranexamic acid (TXA) in parturients undergoing Cesarean delivery have been published, conflicting results raise questions regarding its use. Thus, we aimed to investigate the safety and efficacy of PPH prophylaxis with TXA. SOURCE: We searched PubMed®, Embase, Cochrane Central, and ClinicalTrials.gov for randomized controlled trials (RCTs) comparing prophylactic TXA with placebo or no treatment in parturients undergoing Cesarean delivery. Our main outcomes were PPH, any blood transfusion, need for additional uterotonics, and adverse events. We performed a trial sequential analysis (TSA) of all outcomes to investigate the reliability and conclusiveness of findings. PRINCIPAL FINDINGS: We included 38 RCTs including 22,940 parturients, 11,535 (50%) of whom were randomized to receive prophylactic TXA. Patients treated with TXA had significantly fewer cases of PPH (risk ratio [RR], 0.51; 95% confidence interval [CI], 0.38 to 0.69; P < 0.001); less blood transfusion (RR, 0.43; 95% CI, 0.30 to 0.61; P < 0.001), and less use of additional uterotonics (RR, 0.52; 95% CI, 0.40 to 0.68; P < 0.001). No significant differences were found between the groups in terms of adverse effects and thromboembolic events. CONCLUSION: Prophylactic TXA administration for parturients undergoing Cesarean delivery significantly reduced blood loss, without increasing adverse events, supporting its use as a safe and effective strategy for reducing PPH in this population. STUDY REGISTRATION: PROSPERO (CRD42023422188); first submitted 27 April 2023.

RéSUMé: OBJECTIF: L'hémorragie du post-partum (HPP) est l'une des principales causes de mortalité maternelle dans le monde. Bien que plusieurs études sur l'utilisation prophylactique d'acide tranexamique (TXA) chez les personnes parturientes ayant accouché par césarienne aient été publiées, des résultats contradictoires soulèvent des questions quant à son utilisation. Ainsi, nous avons cherché à étudier l'innocuité et l'efficacité de la prophylaxie à base de TXA pour l'HPP. SOURCES: Nous avons fait une recherche sur PubMed®, Embase, Cochrane Central et ClinicalTrials.gov pour en tirer les études randomisées contrôlées (ERC) comparant le TXA prophylactique à un placebo ou à l'absence de traitement chez les personnes parturientes accouchant par césarienne. Nos principaux critères d'évaluation étaient l'HPP, toute transfusion sanguine, la nécessité d'un utérotonique supplémentaire et les événements indésirables. Nous avons effectué une analyse séquentielle des études pour tous les résultats afin d'examiner la fiabilité et le caractère concluant des conclusions. CONSTATATIONS PRINCIPALES: Nous avons inclus 38 ERC comprenant 22 940 personnes parturientes, dont 11 535 (50 %) ont été randomisées pour recevoir du TXA prophylactique. La patientèle traitée par TXA présentait significativement moins de cas d'HPP (risque relatif [RR], 0,51; intervalle de confiance [IC] à 95 %, 0,38 à 0,69; P < 0,001); moins de transfusion sanguine (RR, 0,43; IC 95 %, 0,30 à 0,61; P < 0,001) et moins d'utilisation d'utérotoniques supplémentaires (RR, 0,52; IC 95 %, 0,40 à 0,68; P < 0,001). Aucune différence significative n'a été constatée entre les groupes en termes d'effets indésirables et d'événements thromboemboliques. CONCLUSION: L'administration prophylactique de TXA pour les personnes parturientes accouchant par césarienne a considérablement réduit les pertes de sang sans augmenter les événements indésirables, ce qui soutient son utilisation comme stratégie sécuritaire et efficace pour réduire l'HPP dans cette population. ENREGISTREMENT DE L'éTUDE: PROSPERO (CRD42023422188); première soumission le 27 avril 2023.

Vestibular Symptoms Following a Retrobulbar Block: A Case Report.

A 62-year-old male patient presented for cataract surgery under retrobulbar block anesthesia. After the regional block, the patient exhibited sudden onset and progressive symptoms of nausea, vomiting, central-type vertigo, and hearing loss. These symptoms subsided within 2 hours, and the patient was discharged after 2 days without any residual effects. This report demonstrates a combination of auditory and vertiginous symptoms after a retrobulbar block. It emphasizes continuous care and vigilance when using regional anesthesia due to the potential risks and varied complications.

Quadratus lumborum block versus transversus abdominis plane block for inguinal hernia repair: A systematic review and meta-analysis with trial sequential analysis.

INTRODUCTION: Postoperative pain management is crucial for patient recovery with Quadratus Lumborum Block (QLB) and Transversus Abdominis Plane Block (TAPB) emerging as potential techniques. We aimed to compare the analgesic efficacy of QLB and TAPB in patients undergoing inguinal hernia repair. METHODS: We performed a systematic review of Cochrane, EMBASE, and MEDLINE databases to identify randomized controlled trials comparing QLB and TAPB in patients undergoing inguinal hernia repair. Outcomes included postoperative pain and opioid consumption. Statistical analysis was performed using RevMan 5.4. The review protocol was registered at PROSPERO (CRD42023445513). RESULTS: We included five RCTs encompassing 255 patients. QLB was associated with a significant decrease in postoperative pain (MD -0.45; 95% CI -0.75 to -0.14; and p = 0.004; I2  = 94%). However, we found no difference in 24-h opioid consumption between QLB and TAPB groups. CONCLUSION: QLB may offer superior pain reduction. However, its effect on opioid consumption remains unclear.

Pharmaceutical Formulations Containing Graphene and 5-Fluorouracil for Light-Emitting Diode-Based Photochemotherapy of Skin Cancer.

Nonmelanoma skin cancer (NMSC) is the most common cancer worldwide, among which 80% is basal cell carcinoma (BCC). Current therapies' low efficacy, side effects, and high recurrence highlight the need for alternative treatments. In this work, a partially reduced nanographene oxide (p-rGOn) developed in our laboratory was used. It has been achieved through a controlled reduction of nanographene oxide via UV-C irradiation that yields small nanometric particles (below 200 nm) that preserve the original water stability while acquiring high light-to-heat conversion efficiency. The latter is explained by a loss of carbon-oxygen single bonds (C-O) and the re-establishment of sp2 carbon bonds. p-rGOn was incorporated into a Carbopol hydrogel together with the anticancer drug 5-fluorouracil (5-FU) to evaluate a possible combined PTT and chemotherapeutic effect. Carbopol/p-rGOn/5-FU hydrogels were considered noncytotoxic toward normal skin cells (HFF-1). However, when A-431 skin cancer cells were exposed to NIR irradiation for 30 min in the presence of Carbopol/p-rGOn/5-FU hydrogels, almost complete eradication was achieved after 72 h, with a 90% reduction in cell number and 80% cell death of the remaining cells after a single treatment. NIR irradiation was performed with a light-emitting diode (LED) system, developed in our laboratory, which allows adjustment of applied light doses to achieve a safe and selective treatment, instead of the standard laser systems that are associated with damages in the healthy tissues in the tumor surroundings. Those are the first graphene-based materials containing pharmaceutical formulations developed for BCC phototherapy.

Prothrombin Complex Concentrate versus Fresh Frozen Plasma in Adult Patients Undergoing Cardiac Surgery: A Systematic Review and Meta-Analysis.

Background: Prothrombin complex concentrate (PCC) and fresh frozen plasma (FFP) are commonly used to manage bleeding in patients during cardiac surgery. However, the relative efficacy and safety of these 2 strategies remain uncertain. Methods: MEDLINE, Embase, and Cochrane were searched for studies comparing PCC and FFP in patients who underwent cardiac surgery complicated by bleeding. Review Manager (RevMan) ver. 5.4 (Nordic Cochrane Centre, The Cochrane Collaboration) was used for statistical analysis. Binary and continuous outcomes were compared using pooled risk ratios and mean differences, respectively. The meta-analysis protocol was registered in the International Prospective Register of Systematic Reviews under protocol number CRD42022379144. Results: We included 8 studies with 1,500 patients, of whom 613 (40.9%) received PCC. The mean follow-up period ranged from 28 to 90 days. The PCC group had significantly lower chest tube drainage at 24 hours (mean difference [MD], -148.50 mL; 95% CI, -253.02 to -43.99 mL; p=0.005; I2=42%). Fewer units of red blood cells (RBCs) were transfused within the first 24 hours (MD, -1.02 units; 95% CI, -1.81 to -0.24 units; p=0.01; I2=56%), and fewer patients required RBC transfusion within the first 24 hours (risk ratio, 0.85; 95% CI, 0.78-0.93; p<0.007; I2=45%) in the PCC group. There were no statistically significant differences in secondary outcomes. Nonetheless, a subgroup analysis of randomized controlled trials failed to corroborate the results obtained from the main analysis. Conclusion: Our findings suggest that PCC can be effective, without increased adverse events, when compared with FFP in patients undergoing cardiac surgery complicated by bleeding.

Thoracic Epidural Anesthesia After a Transversus Abdominis Plane Block With Liposomal Bupivacaine in a Patient With Chronic Opioid Use: A Case Report.

Liposomal bupivacaine is a long-acting local anesthetic drug that provides extended analgesia. A 45-year-old man with metastatic colon cancer and an intrathecal morphine pump for chronic pain underwent a transverse colectomy for a malignant transverse colon obstruction in this case report. The patient reported severe pain despite preoperative fascial plane blocks with liposomal bupivacaine and postoperative pain management strategies. As a result, an exploratory laparotomy was performed to rule out any underlying causes, but no new injuries were discovered. On postoperative day 1, a thoracic epidural catheter was inserted to provide better pain relief for the patient. The patient's pain was well-controlled by postoperative day 4, allowing the epidural catheter to be removed. On postoperative day 5, the patient was discharged home without complications. This case highlights the difficulties in managing post-laparotomy pain as well as the potential benefits of combining multiple analgesic modalities. It also emphasizes the pharmacokinetic properties of liposomal bupivacaine, emphasizing the need for caution due to its prolonged systemic presence and potential for systemic anesthetic toxicity.

Superior Trunk Block Is an Effective Phrenic-Sparing Alternative to Interscalene Block for Shoulder Arthroscopy: A Systematic Review and Meta-Analysis.

The interscalene block (ISB) is the standard regional anesthesia for shoulder arthroscopy. However, the superior trunk block (STB) is an alternative with a potentially safer profile. This meta-analysis aimed to compare the incidence and degree of hemidiaphragmatic paralysis and block efficacy of these techniques. We searched MEDLINE, EMBASE, Scopus, and Cochrane databases to identify randomized controlled trials (RCTs). The main outcome was total hemidiaphragmatic paralysis. We used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) framework to assess the certainty of evidence. Four RCTs and 359 patients were included. The STB group showed lower total hemidiaphragmatic paralysis (RR 0.07; 95% CI 0.04 to 0.14; p<0.0001). The incidence of subjective dyspnea (p = 0.002) and Horner's syndrome (p<0.001) was significantly lower with STB relative to ISB. There was no significant difference between groups in block duration (p = 0.67). There was a high certainty of evidence in the main outcome as per the GRADE framework. Our findings suggest that STB has a better safety profile than ISB, resulting in lower rates of hemidiaphragmatic paralysis and dyspnea while providing a similar block. Therefore, STB could be preferred to ISB, especially in patients susceptible to phrenic nerve paralysis complications.

Adrenal Vein Sampling in the Management of Primary Aldosteronism: The Added Value of Intraprocedural Cortisol Assessment.

Introduction: Primary aldosteronism is the most common cause of secondary hypertension. Adrenal vein sampling is the gold standard for subtyping primary aldosteronism. However, this procedure is technically challenging and often has a low success rate. Our center is one of the very few performing this technique in our country with an increasing experience. Objective: The aim of this study was to evaluate the role of the cortisol intraprocedural assay in improving the performance of adrenal vein sampling. Design: We enrolled all of the patients with primary aldosteronism that underwent adrenal vein sampling from February 2016 to April 2023. The cortisol intraprocedural assay was introduced in October 2021. Methods: We enrolled a total of 50 adrenal vein samplings performed on 43 patients with the diagnosis of primary aldosteronism. In this sample, 19 patients and 24 patients underwent adrenal vein sampling before and after intraprocedural cortisol measurement, respectively. The procedure was repeated in seven patients (one before and six after intraprocedural cortisol measurement), given the unsuccess of the first exam. Selectivity of the adrenal vein sampling was assumed if the serum cortisol concentration from the adrenal vein was at least five times higher than that of the inferior vena cava. Lateralization was assumed if the aldosterone to cortisol ratio of one adrenal vein was at least four times the aldosterone to cortisol ratio of the contralateral side. Results: The mean age of the patients that underwent adrenal vein sampling (N = 43) was 55.2 ± 8.9 years, and 53.5% (n = 23) were female. The mean interval between the diagnosis of hypertension and the diagnosis of primary aldosteronism was 9.8 years (±9.9). At diagnosis, 62.8% of the patients (n = 27) had hypokalemia (mean value of 3 mmol/L (±0.34)), 88.4% (n = 38) had adrenal abnormalities on preprocedural CT scan, and 67.4% (n = 29) described as unilateral nodules. There were no statistically significant differences in the patients' baseline characteristics between the two groups (before and after intraprocedural cortisol measurement). Before intraprocedural cortisol measurement, adrenal vein sampling selectivity was achieved in 35% (n = 7) patients. Selectivity increased to 100% (30/30) after intraprocedural cortisol measurement (p < 0.001). With the exception of one patient who refused it, all patients with lateralized disease underwent unilateral adrenalectomy with normalization of the aldosterone to renin ratio postoperatively. Conclusions: The lack of effective alternatives in subtyping primary aldosteronism highlights the need to improve the success rate of adrenal vein sampling. In this study, intraprocedural cortisol measurement allowed a selectivity of 100%. Its addition to this procedure protocol should be considered, especially in centers with a low success rate.

Mit.OnOff: A Science Communication Project for Public Awareness about Mitochondrial Cytopathies.

INTRODUCTION: Mitochondrial diseases are rare, heterogeneous, incurable and complex to diagnose. Probably due to their rareness, there is still a lack of literacy in this area, especially in society, but also in schools and in general, health care services. Accordingly, tools that may bring advancement in science and health literacy are needed. Mit.OnOff is a science communication project based on a bilateral partnership between the University of Coimbra (Portugal) and the University of Bergen (Norway). It aims to inform society about rare diseases related to mitochondrial cytopathies with an emphasis on LHON. METHODS: The initiative focuses on the creation of an illustrated book explaining the diseases caused by the failure of energy production in simple and accessible language. The aim is to raise awareness (particularly in Portugal and Norway) and provide in-depth knowledge to people suffering from these diseases. RESULTS/CASE REPORT: This project involves expert scientists in the field of mitochondrial disease, science communicators and artists in alignment with the United Nations SDGs, Agenda 2030. Mit.OnOff is a bilateral partnership (Portugal and Norway) established to address the lack of knowledge and health literacy on the subject of mitochondrial disease. The book will be distributed in both countries, creating a sense of inclusion and visibility and influencing decisions regarding these diseases. It is a relevant educational medium (e.g., schools, health care provision). The distribution of the book is complemented with other communication materials. Oral communications are made, together with public involvement, in which special glasses will be distributed to simulate a mitochondrial disease that leads to blindness (LHON) for the public to experience what it is like living with a rare disease. CONCLUSION: It is hoped that the production of this book will give patients a sense of inclusion and representation in the media. This, in turn, will contribute to achieving the SDG targets (3,4,5,8,10,12), i.e., ensuring people live healthy lives, reducing child mortality, and increasing life expectancy, ensuring access to inclusive, equitable and quality education for all, ensuring gender equality, and contributing to a peaceful and prosperous world.

Infraclavicular versus costoclavicular approaches to ultrasound-guided brachial plexus block: a systematic review and meta-analysis.

BACKGROUND: The costoclavicular approach to brachial plexus block may have a more favorable anatomy than the classic infraclavicular approach. However, there are conflicting results in the literature regarding the comparative effectiveness of these two techniques. METHODS: We systematically searched for Randomized Controlled Trials (RCTs) comparing costoclavicular with infraclavicular brachial plexus blocks for upper extremity surgeries on MEDLINE, EMBASE, and Ovid. The outcomes of interest were sensory and motor block onset times, performance times, block failure, and complication rate. We performed statistical analyses using RevMan 5.4 and assessed heterogeneity using the Cochran Q test and I2 statistics. We appraised the risk of bias according to Cochrane's Risk of Bias 2 tool. RESULTS: We included 5 RCTs and 374 patients, of whom 189 (50.5%) were randomized to undergo costoclavicular block. We found no statistically significant differences between the two techniques regarding sensory block onset time in minutes (Mean Difference [MD = -0.39 min]; 95% CI -2.46 to 1.68 min; p = 0.71); motor block onset time in minutes (MD = -0.34 min; 95% CI -0.90 to 0.22 min; p = 0.23); performance time in minutes (MD = -0.12 min; 95% CI -0.89 to 0.64 min; p = 0.75); incidence of block failure (RR = 1.59; 95% CI 0.63 to 3.39; p = 0.63); and incidence of complications (RR = 0.60; 95% CI 0.20 to 1.84; p = 0.37). CONCLUSION: This meta-analysis suggests that the CCV block may exhibit similar sensory and motor onset times when compared to the classic ICV approach in adults undergoing distal upper extremity surgery, with comparable rates of block failure and complications.

Exploring the Potential of Lidocaine in a Bilateral Erector Spinae Plane Block for Multimodal Analgesia in Partial Hepatectomy: A Case Report.

The bilateral erector spinae plane block (ESP) has been effectively used for abdominal surgery, and the placement of catheters is known to extend the benefits of the block while allowing for the adjustment of local anesthetic doses as necessary. Since fascial plane blocks require high volumes of local anesthetic and a prolonged duration of effect, typically, long-acting local anesthetics are preferred. However, lidocaine is not commonly chosen for these types of blocks due to the large volumes required and the associated risk of local anesthetic systemic toxicity. Nonetheless, we present a case report of a patient who underwent a partial hepatectomy under general anesthesia, with perioperative placement of a bilateral ESP block. Bilateral catheters were inserted, and 1% lidocaine was selected as the local anesthetic due to resource limitations. The surgery proceeded without complications, and the patient reported effective analgesia and a high level of satisfaction. Our report suggests that the utilization of lidocaine in a continuous ESP block can be a successful alternative for partial hepatectomies.

Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.

Summary: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics. Learning points: The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD). Diagnosis outside pediatric age is not rare. 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.

Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.

BACKGROUND: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant condition and represents 1-5% of all cases of diabetes mellitus. MODY is often misdiagnosed as type 1 or type 2 diabetes. The rare subtype 5 (HNF1B-MODY) is due to hepatocyte nuclear factor 1ß (HNF1B) molecular alteration and is remarkable for its multisystemic phenotypes characterized by a broad spectrum of pancreatic and extra-pancreatic clinical manifestations. METHODS: Retrospective study of patients with HNF1B-MODY diagnosis followed in the Centro Hospitalar Universitário Lisboa Central (Lisbon, Portugal). Demographic data, medical history, clinical and laboratory data, follow-up and treatment procedures were obtained from electronic medical records. RESULTS: We found 10 patients with HNF1B variants (7 index cases). The median age at diabetes diagnosis was 28 (IQR 24) years and the median age at HNF1B-MODY diagnosis was 40.5 (IQR 23) years. Six patients were initially misclassified as type 1 and 4 as type 2 diabetes. The average time between diabetes diagnosis and the diagnosis of HNF1B-MODY was 16.5 years. Diabetes was the first manifestation in half of the cases. The other half presented with kidney malformations and chronic kidney disease at pediatric age as the first manifestation. All these patients were submitted to kidney transplantation. Long-term diabetes complications included retinopathy (4/10), peripheral neuropathy (2/10) and ischemic cardiomyopathy (1/10). Other extra-pancreatic manifestations included liver test alterations (4/10) and congenital malformation of the female reproductive tract (1/6). History of a first-degree relative with diabetes and/or nephropathy diagnosed at a young age was present in 5 of the 7 index cases. CONCLUSIONS: Despite being a rare disease, HNF1B-MODY is underdiagnosed and often misclassified. It should be suspected in patients with diabetes and CKD, especially when diabetes appears at a young age, a family history is present, and nephropathy appears before/shortly after the diagnosis of diabetes. Presence of unexplained liver disease increases the degree of suspicion for HNF1B-MODY. Early diagnosis is important to minimize complications and to allow familial screening and pre-conception genetic counseling. Trial registration not applicable due to the retrospective nature of the study, non-interventional.

Preoperative Location Of Parathyroid Adenomas In Primary Hyperparathyroidism: The Role of Cervical Doppler Ultrasound.

INTRODUCTION: Parathyroid adenoma is the most frequent cause of primary hyperparathyroidism. In recent years, the preoperative location of parathyroid adenomas allowed minimally invasive surgical techniques that have become preferred over the traditional bilateral neck exploration. The more recent guidelines on this subject highlight the role of nuclear medicine imaging tests. The aim of this study was to review the current role of Doppler ultrasound (US) in assessing the preoperative location of parathyroid adenomas in patients with primary hyperparathyroidism. MATERIAL AND METHODS: Retrospective study based on data from patients with primary hyperparathyroidism that underwent parathyroidectomy between January 2013 and January 2022 at the Centro Hospitalar Universitário Lisboa Central. Statistical analysis was performed with IBM SPSS Statistics, version 26.0.0.0®. RESULTS: Parathyroidectomy was performed in 171 patients (77.8% females) with primary hyperparathyroidism. Cervical Doppler ultrasound was the most performed test (64.3%, n = 110) for preoperative location and detected a suspicious lesion in 98 patients (89.1%). The preoperative location of the parathyroid adenomas was assessed through the Doppler ultrasound and was compared with the surgical reports and histological findings; a correct identification was made in 76 patients (77.6%). Doppler ultrasound slightly underestimated the mean adenoma size (18.1 ± 7.7 mm preoperative versus 22 ± 8.4 mm postoperative). Calcium, parathyroid hormone levels, adenoma size and concomitant presence of thyroid nodules did not affect the accuracy of Doppler ultrasound. CONCLUSION: Doppler ultrasound showed high diagnostic accuracy even in patients with nodular thyroid disease regardless of calcium and parathyroid hormone levels and adenoma size. Furthermore, its safety, affordability and availability should favor its use as first line test in primary hyperparathyroidism to assess the preoperative location of parathyroid adenomas.

Pituitary metastasis as the first manifestation of lung carcinoma.

Pituitary metastases are rare. Clinical presentation could range from asymptomatic to panhypopituitarism or local symptoms. We present a case report of a 43-year-old male patient with a new onset headache, visual disturbances, and panhypopituitarism. The investigation led to the diagnosis of pituitary metastasis as the first manifestation of underlying lung cancer.