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Scientific Reports Jun 2024Congenital diaphragmatic hernia (CDH) is a birth defect characterized by incomplete closure of the diaphragm, herniation of abdominal organs into the chest, and...
Congenital diaphragmatic hernia (CDH) is a birth defect characterized by incomplete closure of the diaphragm, herniation of abdominal organs into the chest, and compression of the lungs and the heart. Besides complications related to pulmonary hypoplasia, 1 in 4 survivors develop neurodevelopmental impairment, whose etiology remains unclear. Using a fetal rat model of CDH, we demonstrated that the compression exerted by herniated organs on the mediastinal structures results in decreased brain perfusion on ultrafast ultrasound, cerebral hypoxia with compensatory angiogenesis, mature neuron and oligodendrocyte loss, and activated microglia. In CDH fetuses, apoptosis was prominent in the subventricular and subgranular zones, areas that are key for neurogenesis. We validated these findings in the autopsy samples of four human fetuses with CDH compared to age- and sex-matched controls. This study reveals the molecular mechanisms and cellular changes that occur in the brain of fetuses with CDH and creates opportunities for therapeutic targets.
Topics: Animals; Hernias, Diaphragmatic, Congenital; Neurons; Oligodendroglia; Rats; Humans; Brain; Female; Stem Cells; Fetus; Disease Models, Animal; Pregnancy; Male
PubMed: 38871804
DOI: 10.1038/s41598-024-64412-x -
Clinical Practice and Cases in... May 2024Visceral arterial aneurysms and pseudoaneurysms are rare but dangerous pathologies, with reported incidence of 0.01-0.2% of the worldwide population, as found on...
INTRODUCTION
Visceral arterial aneurysms and pseudoaneurysms are rare but dangerous pathologies, with reported incidence of 0.01-0.2% of the worldwide population, as found on autopsy. Pancreaticoduodenal artery pathology accounts for approximately 2% of all visceral aneurysms; it is commonly caused by chronic inflammatory processes, such as pancreatitis or adjacent pseudocysts. Morbidity and mortality commonly result from rupture of the aneurysm itself, leading to life-threatening hemorrhage into the peritoneum or gastrointestinal tract.
CASE REPORT
Here we present the case of a 64-year-old male patient with previous history of alcohol use disorder leading to chronic pancreatitis and prior embolization of an inferior pancreaticoduodenal pseudoaneurysm, who presented to the emergency department (ED) with abdominal pain, nausea, and vomiting, and was found to have a large recurrent inferior pancreaticoduodenal pseudoaneurysm with associated obstructive cholangitis and pancreatitis via contrast-enhanced computed tomography (CT) of the abdomen and pelvis. The patient was managed emergently by interventional radiology angiography with embolic coiling and percutaneous biliary catheter placement, and he subsequently underwent biliary duct stenting with gastroenterology. The patient was successfully discharged after a brief hospitalization after resolution of his pancreatitis and associated hyperbilirubinemia.
CONCLUSION
Pancreaticoduodenal artery aneurysms and pseudoaneurysms are rare and dangerous visceral pathologies. Patients can be diagnosed rapidly in the ED with CT imaging and need urgent endovascular management to prevent morbidity and mortality.
PubMed: 38869334
DOI: 10.5811/cpcem.1598 -
Clinical Case Reports Jun 2024Pleomorphic lung cancer is a very rare type of cancer and very few cases have been reported in the literature. We present a case of pleomorphic lung cancer in a patient...
Pleomorphic lung cancer is a very rare type of cancer and very few cases have been reported in the literature. We present a case of pleomorphic lung cancer in a patient with history of IgA nephropathy on hemodialysis.
PubMed: 38868109
DOI: 10.1002/ccr3.9057 -
Europace : European Pacing,... Jun 2024
Topics: Humans; Autopsy; Epilepsy; Adolescent; Death, Sudden, Cardiac; Cause of Death; Sudden Unexpected Death in Epilepsy; Young Adult; Child
PubMed: 38867571
DOI: 10.1093/europace/euae163 -
BMJ Open Jun 2024Stillbirth is a fundamental component of childhood mortality, but its causes are still insufficiently understood. This study aims to explore stillbirth risk factors by...
Stillbirth is a fundamental component of childhood mortality, but its causes are still insufficiently understood. This study aims to explore stillbirth risk factors by using a multidisciplinary approach to stimulate public policies and protocols to prevent stillbirth, improve maternal care and support bereaved families. METHODS AND ANALYSIS: In this case-control study with stillbirths and live births in 14 public hospitals in São Paulo, mothers are interviewed at hospitals after delivery, and hospital records and prenatal care registries are reviewed. Maternal and umbilical cord blood samples and placentas are collected to analyse angiogenesis and infection biomarkers, and the placenta's anatomopathological exam. Air pollutant exposure is estimated through the participant's residence and work addresses. Traditional and non-invasive autopsies by image-guided histopathology are conducted in a subset of stillbirths. Subsample mothers of cases are interviewed at home 2 months after delivery on how they were dealing with grief. Information contained in the official prenatal care registries of cases and controls is being compiled. Hospital managers are interviewed about the care offered to stillbirth mothers. Data analysis will identify the main risk factors for stillbirth, investigate their interrelations, and evaluate health services care and support for bereaved families. We hope this project will contribute to the understanding of stillbirth's risk factors and related health services in Brazil, providing new knowledge about this central public health problem, contributing to the improvement of public policies and prenatal and puerperal care, helping to prevent stillbirths and improve the healthcare and support for bereaved families. ETHICS AND DISSEMINATION: This study protocol was approved by the Ethics Committee of the Municipal Health Secretary (process no 16509319.0.3012.5551) and of the Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (process no 16509319.0.0000.0068). Results will be communicated to the study participants, policy-makers and the scientific community.
Topics: Humans; Stillbirth; Brazil; Case-Control Studies; Female; Pregnancy; Risk Factors; Prenatal Care; Research Design; Risk Assessment; Placenta
PubMed: 38866578
DOI: 10.1136/bmjopen-2023-079261 -
International Journal of Legal Medicine Jun 2024The authors present the case of a 58-year-old man found hanging from a radiator by his shoelaces. The time of death was approximately 6 h before the body was...
The authors present the case of a 58-year-old man found hanging from a radiator by his shoelaces. The time of death was approximately 6 h before the body was discovered. An autopsy was performed approximately 24 h after the body was found, which revealed hemorrhages in the thoracic aorta at the junctions of the posterior intercostal arteries. Before autopsy, a routine whole-body CT scan was performed. Histologic examination of the aorta and the posterior intercostal arteries revealed a fresh hemorrhage into the tunica adventitia of the aorta. To our knowledge, there is no case description of such findings in hanged persons in the literature. Conclusion: Hemorrhages into the tunica adventitia of the junction of the posterior costal arteries may occur in association with suicidal hanging. The significance of these hemorrhages as a sign of vitality may be debated.
PubMed: 38861166
DOI: 10.1007/s00414-024-03261-9 -
Journal of Arthropod-borne Diseases Sep 2023It is possible to identify drugs and poisons present in cadavers by analyzing blowfly larvae and pupae collected during forensic autopsies. The main purpose of this...
BACKGROUND
It is possible to identify drugs and poisons present in cadavers by analyzing blowfly larvae and pupae collected during forensic autopsies. The main purpose of this study was to use larvae and pupae to identify drugs and poisons present in human cadavers.
METHODS
In an investigation, immature fed meat treated with methamphetamine (MA) at various concentrations (45, 90, and 180 ng/mg) were analyzed to detect MA. Acetylation derivatization and liquid-liquid extraction (LLE) were used as sample preparation methods prior to gas chromatography-mass spectrometry (GC-MS) analytical instrumentation to find MA.
RESULTS
According to this study, can be used in toxicological testing to identify MA in a host body. All larval stages, particularly the third stage larva, pupa and empty pupa tested were positive for MA. Larvae in their first instar produced weak peaks. The post-feeding instar following the 45 ng/mg treatment showed the highest MA concentration. For the first time, derivatization using the acetylation approach was used to prepare samples, and successfully, excellent results were obtained.
CONCLUSION
Low quantities of MA can be easily found in immature fly samples using GC-MS. It is important to analyze all samples including human tissues and insect samples, for postmortem drug testing. They can be utilized to find entire MA before they are excreted in excretory samples such as urine. Also, third instar larvae are a great and reliable sample for toxicological study.
PubMed: 38860200
DOI: 10.18502/jad.v17i3.14984 -
Cureus May 2024Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by photosensitivity, rashes on the nose and cheeks, short stature, and a predisposition...
Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by photosensitivity, rashes on the nose and cheeks, short stature, and a predisposition to develop cancers. In this report, we discuss the diagnosis and management of a 34-year-old Canadian male BS patient, originally from Honduras, who developed B-cell lymphoma and a subsequent non-small cell lung carcinoma (NSCLC). Given the radiosensitivity of the patient due to his BS diagnosis and the early stage of the low-grade B-cell lymphoma, we relied on surveillance as the clinical approach to his management. The treatment for NSCLC was initiated in stage III of the disease and was palliative in intent. Chemotherapy (12 rounds of paclitaxel, with the dosage gradually increasing from 48 mg to 58 mg and finally to 72 mg) was employed to shrink the left upper lobe (LUL) lung mass. Subsequently, radiotherapy (3000 cGY in 20 fractions) was administered to improve symptoms further. The radiotherapy dose schedule was modified given the patient's BS diagnosis to avoid excessive toxicity. The palliative treatment course was well tolerated by the patient and resulted in symptom relief. However, his cancer progressed over the course of the treatment, ultimately resulting in his death 18 months after the initial diagnosis of NSCLC; no autopsy was performed. We believe this report will spur clinicians to engage in fruitful discussions about tailoring chemotherapy and radiation therapy regimens for treating cancer in BS patients.
PubMed: 38860091
DOI: 10.7759/cureus.60107 -
Cureus May 2024Knowledge of anatomical variability is extremely important in order to better understand the etiology of pain, if present, or to avoid iatrogenic consequences. Sometimes...
Knowledge of anatomical variability is extremely important in order to better understand the etiology of pain, if present, or to avoid iatrogenic consequences. Sometimes the anatomical "anomalies" have the same anamnesis but different causes. For example, sciatic neuralgia may be caused by a herniated disc or it may have a different origin. The sciatic nerve (SN), also known as the ischial nerve, is the widest in the human body. This huge peripheral nerve originates from the roots of the lumbosacral plexus (L4-S3) and passes through the great sciatic foramen, under the piriformis muscle (PM). However, there is much variability in the pattern of SNs about the muscle, which has been known since the first half of the 20th century. In the present study, we describe six different case reports of anatomical variations of the SN and its interplay with the PM. The observations were made during dissection classes at the ICLO Teaching and Research Centre (Verona, Italy), on both male and female cadavers aged between 58 and 84 years. The SN was reported as a single and divided nerve into the tibial nerve (TN) and the common peroneal nerve (CPN), passing alone above, below, or between the PM. However, the two parts of the SN may also interact with the PM in different ways, adding to the anatomical variability. A thorough knowledge of the anatomical variations in any part of the human body is extremely important. The various techniques used, from imaging to autopsy or surgery, are also useful in the SN pathway. Thus, the anatomical features and the understanding of each variation are useful for a correct approach that can lead to an effective and correct treatment with a favorable outcome.
PubMed: 38860073
DOI: 10.7759/cureus.60083 -
Frontiers in Genetics 2024Rare genetic disorders may result in death before a definitive clinical diagnosis is established.
BACKGROUND
Rare genetic disorders may result in death before a definitive clinical diagnosis is established.
AIM
This study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders.
RESULTS
Six couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed. Four out of 6 couples reported consanguinity. Exome and genome sequencing were performed for the parents. Carrier status of two rare lethal metabolic disorders was confirmed in one consanguineous couple. Three couples were carriers of 3 other rare diseases. Variants of LYST, MPV17, HEXB, ITGB4, CD3E, ASPM, TK2, COL11A2, and LAMB3 genes were identified. Six out of 10 were pathogenic variants, out of which 4 correlated with the demised children's phenotypes. One couple was negative for pathogenic variants. The last couple did not undergo genetic testing since they were beyond the fertile window.
CONCLUSION
Appropriate parental genetic evaluation and counseling are mandatory for selecting the right genetic test to certify the diagnosis , by virtue of molecular autopsy by proxy. Clarifying a rare disorder diagnosis can help couples to avoid recurrence and plan early for their next pregnancies.
PubMed: 38859940
DOI: 10.3389/fgene.2024.1400295