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1.
Am J Forensic Med Pathol ; 45(2): 172-176, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38300708

ABSTRACT

ABSTRACT: Chiropractic cervical spinal manipulations have several complications and can result in vascular injury, including traumatic dissection of the vertebral arteries. A 43-year-old woman was admitted to the emergency department after performing a self-chiropractic spinal manipulation. She experienced headache and vomiting and was unresponsive with severe hypertension at the time of hospital admission. Clinical computerized tomography angiography showed narrowing of the right vertebral artery but was inconclusive for dissection or thrombosis. At autopsy, subacute dissection of the right vertebral artery was identified along with cerebral edema and herniation. A small peripheral pulmonary thromboembolism in the right lung was also seen. Neuropathology consultation confirmed the presence of diffuse cerebral edema and acute hypoxic-ischemic changes, with multifocal acute subarachnoid and intraparenchymal hemorrhage of the brain and spinal cord. This case presents a unique circumstance of a fatal vertebral artery dissection after self-chiropractic manipulation that, to the best of our knowledge, has not been previously described in the medical literature.


Subject(s)
Vertebral Artery Dissection , Humans , Adult , Female , Manipulation, Chiropractic/adverse effects , Brain Edema/pathology , Pulmonary Embolism/etiology , Fatal Outcome
2.
Ugeskr Laeger ; 185(13)2023 03 27.
Article in Danish | MEDLINE | ID: mdl-36999287

ABSTRACT

Hyperthermia is a severe complication to intake of methamphetamines due to generalised overactivation of metabolism and muscle activity combined with vasoconstriction. In this case report, a patient presented to the emergency department after injection of 2 g "crystal meth", and advanced into fatal hyperthermia and organ failure in the intensive care unit. Treatment of substance-induced hyperthermia is symptomatic and reducing metabolism with benzodiazepines and actively lowering body temperature with ice packs and cold intravenous fluids are appropriate interventions. Dantrolene may be used but is still to be properly investigated.


Subject(s)
Hyperthermia, Induced , Malignant Hyperthermia , Methamphetamine , Humans , Fatal Outcome , Hyperthermia, Induced/adverse effects
3.
N Engl J Med ; 386(9): 861-868, 2022 03 03.
Article in English | MEDLINE | ID: mdl-35235727

ABSTRACT

Melioidosis, caused by the bacterium Burkholderia pseudomallei, is an uncommon infection that is typically associated with exposure to soil and water in tropical and subtropical environments. It is rarely diagnosed in the continental United States. Patients with melioidosis in the United States commonly report travel to regions where melioidosis is endemic. We report a cluster of four non-travel-associated cases of melioidosis in Georgia, Kansas, Minnesota, and Texas. These cases were caused by the same strain of B. pseudomallei that was linked to an aromatherapy spray product imported from a melioidosis-endemic area.


Subject(s)
Aromatherapy/adverse effects , Burkholderia pseudomallei/isolation & purification , Disease Outbreaks , Melioidosis/epidemiology , Aerosols , Brain/microbiology , Brain/pathology , Burkholderia pseudomallei/genetics , COVID-19/complications , Child, Preschool , Fatal Outcome , Female , Genome, Bacterial , Humans , Lung/microbiology , Lung/pathology , Male , Melioidosis/complications , Middle Aged , Phylogeny , Shock, Septic/microbiology , United States/epidemiology
4.
Medicine (Baltimore) ; 100(52): e28389, 2021 Dec 30.
Article in English | MEDLINE | ID: mdl-34967372

ABSTRACT

RATIONALE: Cerebral air embolism from portal venous gas rarely occurs due to invasive procedures (e.g., endoscopic procedures, liver biopsy, or percutaneous transhepatic biliary drainage) that disrupt the gastrointestinal or hepatobiliary structures. Here, we report a rare case of fatal cerebral air embolism following a series of percutaneous transhepatic biliary drainage tube insertions. PATIENT CONCERNS: A 50-year-old woman with a history of cholecystectomy, liver wedge resection, and hepaticojejunostomy for gallbladder cancer presented with altered mental status 1 week after percutaneous transhepatic biliary drainage tube placement. DIAGNOSES: Extensive cerebral air embolism and acute cerebral infarction. INTERVENTIONS: Brain computed tomography and magnetic resonance imaging, hyperbaric oxygen therapy, medical therapy. OUTCOMES: Despite the use of hyperbaric oxygen therapy and medical treatment including vasopressors, the patient eventually died due to massive systemic air embolism. LESSONS: To date, there have been no reports of cerebral air embolism due to percutaneous transhepatic biliary drainage with pronounced radiologic images. We reviewed previously reported fatal cases associated with endoscopic hepatobiliary procedures and assessed the possible mechanisms and potential causes of air embolism.


Subject(s)
Biliary Tract Surgical Procedures , Cerebrovascular Circulation , Cerebrum/blood supply , Embolism, Air , Gallbladder Neoplasms/surgery , Portal Vein , Biliary Tract Surgical Procedures/adverse effects , Cerebrum/diagnostic imaging , Digestive System Surgical Procedures/adverse effects , Drainage/adverse effects , Embolism, Air/diagnostic imaging , Embolism, Air/etiology , Embolism, Air/therapy , Fatal Outcome , Female , Hepatectomy , Humans , Hyperbaric Oxygenation , Liver/surgery , Middle Aged , Portal Vein/diagnostic imaging
5.
Avian Dis ; 65(1): 86-89, 2021 03.
Article in English | MEDLINE | ID: mdl-34339127

ABSTRACT

A 9-yr-old female black-footed African penguin (Spheniscus demersus) was presented for necropsy after a history of reproductive abnormalities, paresis of limbs, weakness, and sudden death. Postmortem examination revealed soft keel, collapsed rib cage with beading of the ribs, and bilateral parathyroid enlargement. Classic histologic lesions of fibrous osteodystrophy with osteomalacia were observed in the ribs, vertebrae, and to a lesser extent in the femur and tibiotarsus associated with hyperplasia of parathyroid glands. This represents the first report of nutritional secondary hyperparathyroidism in birds of the order Spheniciformes, most likely caused by low levels of calcium supplementation during egg laying. The reproductive abnormalities observed in this penguin and others from the same group (asynchronous egg-laying cycles, abnormal breeding behavior) were most likely exacerbated by the lack of an adequate photoperiod mimicking the natural daylight pattern.


Reporte de caso­Hiperparatiroidismo secundario nutricional y osteodistrofia fibrosa en un pingüino africano (Spheniscus demersus) en cautiverio similar a la osteomalacia observada en de aves de corral. Una hembra de pingüino africano de patas negras (Spheniscus demersus) de nueve años fue sometida a necropsia después de un historial de anomalías reproductivas, paresia de extremidades, debilidad y muerte súbita. El examen post mortem reveló que la quilla del esternón estaba blanda, la caja torácica colapsada, se observaron "perlas raquíticas" en las costillas y agrandamiento bilateral de las paratiroides. Se observaron lesiones histológicas clásicas de osteodistrofia fibrosa con osteomalacia en las costillas, vértebras y en menor medida, en el fémur y tibiotarsus asociadas con hiperplasia de glándulas paratiroides. Esto representa el primer informe de hiperparatiroidismo secundario nutricional en un ave del orden Spheniciformes, muy probablemente causado por un bajo nivel de suplementos de calcio durante la producción de huevos. Las anomalías reproductivas observadas en este pingüino y otros del mismo grupo (ciclos de puesta de huevos asincrónicos, comportamiento de reproducción anormal) probablemente se vieron exacerbadas por la falta de un fotoperíodo adecuado que imitara el patrón de luz natural.


Subject(s)
Bird Diseases/diagnosis , Hyperparathyroidism, Secondary/veterinary , Osteomalacia/veterinary , Spheniscidae , Animals , Animals, Zoo , Bird Diseases/etiology , Bird Diseases/pathology , Fatal Outcome , Female , Hyperparathyroidism, Secondary/diagnosis , Hyperparathyroidism, Secondary/etiology , Hyperparathyroidism, Secondary/pathology , Osteomalacia/diagnosis , Osteomalacia/etiology , Osteomalacia/pathology
6.
Medicine (Baltimore) ; 100(25): e26384, 2021 Jun 25.
Article in English | MEDLINE | ID: mdl-34160415

ABSTRACT

RATIONALE: A hormone-active metastatic Hürthle cell thyroid carcinoma (HCTC) and Graves disease (GD) present a therapeutic challenge and is rarely reported. PATIENT CONCERNS: We present a 64-year-old male patient, who had dyspnea and left hip pain lasting 4 months. He had clinical signs of hyperthyroidism and a tumor measuring 9 cm in diameter of the left thyroid lobe, metastatic neck lymph node and metastases in the lungs, mediastinum, and bones. DIAGNOSIS: Laboratory findings confirmed hyperthyroidism and GD. Fine-needle aspiration biopsy and cytological investigation revealed metastases of HCTC in the skull and in the 8th right rib. A CT examination showed a thyroid tumor, metastatic neck lymph node, metastases in the lungs, mediastinum and in the 8th right rib measuring 20 × 5.6 × 4.5 cm, in the left acetabulum measuring 9 × 9 × 3 cm and parietooccipitally in the skull measuring 5 × 4 × 2 cm. Histology after total thyroidectomy and resection of the 8th right rib confirmed metastatic HCTC. INTERVENTIONS: The region of the left hip had been irradiated with concomitant doxorubicin 20 mg once weekly. When hyperthyroidism was controlled with thiamazole, a total thyroidectomy was performed. Persistent T3 hyperthyroidism, most likely caused by TSH-R-stimulated T3 production in large metastasis in the 8th right rib, was eliminated by rib resection. Thereafter, the patient was treated with 3 radioactive iodine-131 (RAI) therapies (cumulative dose of 515 mCi). Unfortunately, the tumor rapidly progressed after treatment with RAI and progressed 10 months after therapy with sorafenib. OUTCOMES: Despite treatment, the disease rapidly progressed and patient died due to distant metastases. He survived for 28 months from diagnosis. LESSONS: Simultaneous hormone-active HCTC and GD is extremely rare and prognosis is dismal. Concomitant external beam radiotherapy and doxorubicin chemotherapy, followed by RAI therapy, prevented the growth of a large metastasis in the left hip in our patient. However, a large metastasis in the 8th right rib presented an unresolved problem. Treatment with rib resection and RAI did not prevent tumor recurrence. External beam radiotherapy and sorafenib treatment failed to prevent tumor growth.


Subject(s)
Adenoma, Oxyphilic/diagnosis , Graves Disease/diagnosis , Thyroid Neoplasms/diagnosis , Adenoma, Oxyphilic/complications , Adenoma, Oxyphilic/secondary , Adenoma, Oxyphilic/therapy , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Biopsy, Fine-Needle , Bone Neoplasms/diagnosis , Bone Neoplasms/secondary , Bone Neoplasms/therapy , Chemoradiotherapy, Adjuvant/methods , Fatal Outcome , Graves Disease/complications , Graves Disease/therapy , Humans , Iodine Radioisotopes/therapeutic use , Lung Neoplasms/diagnosis , Lung Neoplasms/secondary , Lung Neoplasms/therapy , Lymphatic Metastasis/diagnosis , Lymphatic Metastasis/therapy , Male , Mediastinal Neoplasms/diagnosis , Mediastinal Neoplasms/secondary , Mediastinal Neoplasms/therapy , Middle Aged , Neoadjuvant Therapy/methods , Thyroid Gland/diagnostic imaging , Thyroid Gland/pathology , Thyroid Gland/surgery , Thyroid Neoplasms/complications , Thyroid Neoplasms/pathology , Thyroid Neoplasms/secondary , Thyroid Neoplasms/therapy , Thyroidectomy
7.
BMC Endocr Disord ; 21(1): 98, 2021 May 10.
Article in English | MEDLINE | ID: mdl-33971870

ABSTRACT

BACKGROUND: Manifestations of hypokalaemia in ectopic adrenocorticotropic hormonesyndrome(EAS) vary from mild muscle weakness to life-threatening arrhythmia. Herein, we present a rare case of EAS with concomitant rhabdomyolysis(RM) as a result of intractable hypokalaemia. CASE PRESENTATION: A 64-year-old man was admitted for limb weakness and facial hyperpigmentation for 2 weeks. Lab tests revealed intractable hypokalaemia (lowest at 1.8 mmol/L) and metabolic alkalosis. The diagnosis of RM was based on a creatine kinase(CK)level of 5 times the upper limit. The elevated CK and myohemoglobin (Mb) levels returned to within the normal range after the alleviation of hypokalaemia. The patient was diagnosed with ACTH-dependent Cushing's syndrome (CS) based on unsuppressed serum cortisol after a low-dose dexamethasone suppression test(LDDST) and remarkably elevated ACTH levels. The diagnosis of EAS was made based on the results of a high-dose dexamethasone suppression test(HDDST) and bilateral inferior petrosal sinus sampling(BIPSS). Multiple lymph nodes in the left supraclavicular fossa, right root of neck, mediastinum and bilateral hili of the lung were found with abnormal uptake of 68Ga-DOTA-NOC. Mediastinoscopic lymph node biopsy was performed. The pathological diagnosis was small-cell and large-cell neuroendocrine carcinoma with positive ACTH staining. The patient was prescribed mifepristone and received one cycle of chemotherapy. The patient could not tolerate subsequent chemotherapy and died of dyscrasia. CONCLUSIONS: RM is a rare complication of EAS with insidious onset and atypical clinical manifestations. Serum potassium levels should be vigilantly monitored to avoid RM in EAS.


Subject(s)
ACTH Syndrome, Ectopic/complications , Carcinoma, Neuroendocrine/complications , Hypokalemia/complications , Rhabdomyolysis/etiology , ACTH Syndrome, Ectopic/diagnostic imaging , Carcinoma, Neuroendocrine/therapy , Fatal Outcome , Humans , Male , Middle Aged , Radiography, Thoracic
9.
Klin Onkol ; 34(2): 137-140, 2021.
Article in English | MEDLINE | ID: mdl-33906362

ABSTRACT

BACKGROUND: Translocation renal cell carcinoma (TRCC) is a rare form of RCC affecting mostly children and young adults with the occurrence of only 1-5% of all renal cell carcinomas. These carcinomas are associated with different translocations on a short arm of chromosome X in the region 11.2, which results in genetic modification of the p arm containing the transcription factor E3 gene. METHODS: Herein we report a case of a patient who was dia-gnosed with TRCC with c-Met overexpression and was treated with multiple targeted therapy agents and immunotherapy. CASE: A 28-year old woman without a significant past medical history underwent left sided total nephrectomy for TRCC. Seven months later, she developed systemic relapse and was treated with multiple lines of targeted therapy including sunitinib, everolimus, sorafenib, crizotinib, and pazopanib as well as with anti-PD-L1 antibody nivolumab, with stable disease as a best response. The most pronounced disease stabilization was achieved with sorafenib, which lasted 18 months. The patient died 81 months after initial dia-gnosis and 74 months from the dia-gnosis of metastatic disease. CONCLUSION: Improved survival observed in our patient could be related to the effectivity of tyrosine-kinase inhibitors, but notm-TOR inhibitors, even though disease stabilisation was observed as a best response. Identification of new treatment targets are warranted in this rare disease.


Subject(s)
Antineoplastic Agents/therapeutic use , Carcinoma, Renal Cell/drug therapy , Chromosomes, Human, X , Kidney Neoplasms/drug therapy , Protein Kinase Inhibitors/therapeutic use , Adult , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics , Carcinoma, Renal Cell/diagnostic imaging , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/pathology , Crizotinib/therapeutic use , Disease Progression , Everolimus/therapeutic use , Fatal Outcome , Female , Humans , Indazoles/therapeutic use , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , Molecular Targeted Therapy , Nivolumab/therapeutic use , Proto-Oncogene Proteins c-met/antagonists & inhibitors , Proto-Oncogene Proteins c-met/genetics , Pyrimidines/therapeutic use , Sorafenib/therapeutic use , Sulfonamides/therapeutic use , Sunitinib/therapeutic use , Tomography, X-Ray Computed
10.
Anaerobe ; 69: 102363, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33819627

ABSTRACT

Bacteroides fluxus is a Gram-negative anaerobic bacillus isolated from human faeces in healthy individuals. Until now, this bacterium had not been involved in human diseases. We report the first case of abdominal infection due to this microorganism in an elderly patient. A 76-year-old man with a history of chronic pulmonary obstructive disease presented with dyspnea, orthopnea and cough. The clinical evolution worsened with both a colonic ischemia and further diffuse peritonitis of pancreatic origin. Peritoneal fluid was obtained and the culture yielded B. fluxus in pure culture. Resistance to penicillin, amoxicillin-clavulanate, clindamycin and moxifloxacin was documented. Treatment with meropenem + linezolid was started, but the patient finally died due to a multiorganic failure.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Bacteroides Infections/drug therapy , Bacteroides Infections/mortality , Bacteroides/drug effects , Intraabdominal Infections/drug therapy , Intraabdominal Infections/mortality , Linezolid/therapeutic use , Meropenem/therapeutic use , Aged , Fatal Outcome , Humans , Male , Microbial Sensitivity Tests
11.
PLoS Negl Trop Dis ; 15(3): e0009238, 2021 03.
Article in English | MEDLINE | ID: mdl-33764976

ABSTRACT

Mycetoma is a neglected tropical disease which is endemic in Senegal. Although this subcutaneous mycosis is most commonly found on the foot, extrapodal localisations have also been found, including on the leg, knee, thigh, hand, and arm. To our knowledge, no case of blood-spread eumycetoma has been reported in Senegal. Here, we report a case of pulmonary mycetoma secondary to a Madurella mycetomatis knee eumycetoma. The patient was a 41-year-old farmer living in Louga, Senegal, where the Sudano-Sahelian climate is characterised by a short and unstable rainy season and a steppe vegetation. He suffered a trauma to the right more than 20 years previously and had received treatment for more than 10 years with traditional medicine. He consulted at Le Dantec University Hospital in Dakar for treatment of a right knee mycetoma which had been diagnosed more than 10 years ago. He had experienced a chronic cough for more than a year; tuberculosis documentation was negative. Grains collected from the knee and the sputum isolated M. mycetomatis, confirmed by the rRNA gene ITS regions nucleotide sequence analysis. An amputation above the knee was performed, and antibacterial and antifungal therapy was started with amoxicillin-clavulanic acid and terbinafine. The patient died within a month of his discharge from hospital.


Subject(s)
Knee Injuries/complications , Knee/microbiology , Lung Diseases, Fungal/microbiology , Madurella , Mycetoma/microbiology , Adult , Fatal Outcome , Humans , Lung Diseases, Fungal/diagnostic imaging , Mycetoma/diagnostic imaging , Mycetoma/etiology , Senegal
12.
BMC Nephrol ; 22(1): 91, 2021 03 15.
Article in English | MEDLINE | ID: mdl-33722190

ABSTRACT

BACKGROUND: COVID-19 infection in kidney transplant recipients often lead to allograft dysfunction. The allograft injury has various histopathological manifestations. Our case illustrates the unusual combination of allograft rejection, acute kidney injury secondary to oxalate nephropathy and SARS CoV-2 nephropathy as the cause of irreversible allograft failure. CASE PRESENTATION: A 56 year old renal allograft recipient presented with a history of fever and diarrhoea for the preceding 4 weeks, tested positive for Sars-CoV2 on nasal swab and was found to have severe allograft dysfunction, necessitating haemodialysis. He subsequently underwent an allograft biopsy, which demonstrated antibody mediated rejection along with the presence of extensive oxalate deposition in the tubules. Ultrastructural examination demonstrated spherical spiked particles in the glomerular capillary endothelium and the presence of tubulo-reticular inclusions suggestive of an active COVID-19 infection within the kidney. The intra-tubular oxalate deposition was considered to be the result of high dose, supplemental Vitamin C used as an immune booster in many patients with COVID - 19 infection in India. CONCLUSIONS: This case highlights the complex pathology that may be seen in following COVID-19 disease and the need for kidney biopsies in these patients to better understand the aetiology of disease.


Subject(s)
Ascorbic Acid/adverse effects , COVID-19/complications , Graft Rejection/etiology , Hyperoxaluria/complications , Kidney Transplantation , Primary Graft Dysfunction/etiology , Acute Kidney Injury/etiology , Ascorbic Acid/administration & dosage , COVID-19/diagnosis , Fatal Outcome , Humans , Kidney Diseases/complications , Kidney Diseases/pathology , Male , Middle Aged , Primary Graft Dysfunction/pathology , Primary Graft Dysfunction/virology
13.
Medicine (Baltimore) ; 100(11): e25189, 2021 Mar 19.
Article in English | MEDLINE | ID: mdl-33726010

ABSTRACT

RATIONALE: In this report, we present an extremely rare case of recurrent monocular exudative retinal detachment without concomitant ocular metastases. This turned out to be the first symptom of squamous cell lung cancer. PATIENT CONCERNS: A 63-year-old woman was referred to our ophthalmology clinic by her primary care physician with a complaint of deteriorating vision in her right eye that had started four months prior, without concomitant pain. DIAGNOSES: We observed a detachment in the lower part of the retina during her ophthalmoscopy. We did not find any tears, holes, or degenerative changes in the periphery of the retina of the right eye during the surgery. In addition, plaques, tumor masses, and metastases were absent. Therefore, we diagnosed her with unilateral paraneoplastic exudative retinal detachment. Imaging tests performed before surgery revealed perihilar density with a visible air bronchogram in the middle field of the left lung. This turned out to be squamous cell carcinoma. INTERVENTIONS: Patient underwent pars plana vitrectomy and routine laboratory and imaging tests before the procedure that utilized 20-gauge instrumentation. The subretinal fluid and was drained and a tamponade using Densiron (Fluoron Co, Neu-Ulm, Germany) was applied. After ophthalmic treatment, patient underwent complex oncological treatment based on chemotherapy and radiotherapy. OUTCOMES: Despite the application of heavy silicone oil (Densiron) into the vitreous chamber, we observed a recurrence of retinal detachment in the right eye during the follow-up visit, 13 months after the first ophthalmic surgery. Following subsequent pars plana vitrectomy, the Densiron and subretinal membranes were removed. Despite oncological treatment, the patient died, twenty months after the appearance of the first ocular symptoms. LESSONS: Exudative retinal detachment without tumor metastasis to the eyeball can be one of the first signs of lung cancer in rare cases. Multidisciplinary care and imaging methods with greater accuracy will provide comprehensive care to the patients. It will not only facilitate timely detection and treatment of lung tumors but also for a plethora of oncological diseases.


Subject(s)
Carcinoma, Squamous Cell/complications , Lung Neoplasms/complications , Paraneoplastic Syndromes, Ocular/pathology , Retinal Detachment/pathology , Fatal Outcome , Female , Humans , Middle Aged , Paraneoplastic Syndromes, Ocular/etiology , Recurrence , Retinal Detachment/etiology
14.
Int J Legal Med ; 135(3): 903-908, 2021 May.
Article in English | MEDLINE | ID: mdl-33447890

ABSTRACT

In sauna-associated deaths, the vitality of heat exposure is of great importance. Two case reports address this. First, we present the case of a 77-year-old man who was found dead in the sauna of his family home. When found, the sauna door was closed, and the sauna indicated a temperature of 78 °C. The body had already begun to decay and was partially mummified when it was found. In the other case, a 73-year-old woman was found dead in the sauna by her husband. In this case, the sauna door was also closed. The sauna was still in operation at a temperature of approximately 70 °C. Epidermal detachments were found. In both autopsies and their follow-up examinations, there were no indications of a cause of death competing with heat shock. The expression of heat shock proteins in kidneys and lungs and the expression of aquaporin 3 in skin were investigated to detect pre-mortal temperature influences.


Subject(s)
Aquaporin 3/analysis , Heat-Shock Proteins/analysis , Heat-Shock Response , Kidney/pathology , Lung/pathology , Skin/pathology , Steam Bath , Aged , Fatal Outcome , Female , Humans , Male
15.
Breast Cancer ; 28(3): 765-771, 2021 May.
Article in English | MEDLINE | ID: mdl-33389615

ABSTRACT

We experienced a case of breast cancer in which liver metastases spread rapidly and the patient died of pulmonary tumor thrombotic microangiopathy (PTTM). PTTM is a fatal cancer-associated respiratory complication disease. To reveal genetic alterations of the clinical course, we performed next generation sequencing of the serial specimens using the Ion AmpliSeqTM Comprehensive Cancer Panel and RNA sequencing for transcriptomic data, followed by gene set analysis. The analysis revealed an oncogenic TP53 R213* mutation in all specimens and STK11 loss in tissues sampled after disease progression. Immunohistochemistry with an anti-STK11 antibody confirmed no STK11 expression in the samples after progression. Transcriptome analysis showed a significant downregulation of proteins associated with apoptosis in the specimens with STK11 loss. STK11 loss may have triggered the rapid progression of PTTM from a comprehensive genomic analysis.


Subject(s)
Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/secondary , Liver Neoplasms/secondary , Thrombotic Microangiopathies/etiology , AMP-Activated Protein Kinase Kinases , Breast Neoplasms/diagnosis , Carcinoma, Ductal, Breast/diagnosis , Carcinoma, Ductal, Breast/pathology , Fatal Outcome , Female , High-Throughput Nucleotide Sequencing , Humans , Liver Neoplasms/complications , Liver Neoplasms/pathology , Middle Aged , Mutation , Protein Serine-Threonine Kinases
17.
Nagoya J Med Sci ; 82(3): 579-583, 2020 Aug.
Article in English | MEDLINE | ID: mdl-33132441

ABSTRACT

A 65-year-old woman died of congestive heart failure and diabetes mellitus. She had a history of mild anemia since adolescence, but received neither iron supplementation nor transfusion. The cirrhotic liver obtained at autopsy contained a large amount of iron. The heart and pancreas also had excess iron. Her iron overload may be due to excess iron absorption in the gut because of the absence of an iatrogenic background such as transfusion or iron supplementation.


Subject(s)
Anemia/metabolism , Anemia/mortality , Iron Overload/metabolism , Iron Overload/mortality , Aged , Fatal Outcome , Female , Humans , Japan
18.
BMJ Case Rep ; 13(9)2020 Sep 09.
Article in English | MEDLINE | ID: mdl-32912885

ABSTRACT

Malignant melanoma is cancer of the skin which commonly metastasises to the stomach. There have been no reported cases of emphysematous gastritis secondary to metastasis of malignant melanomas, to date. However, a 61-year-old woman with metastatic malignant melanoma of the left great toe presented to us with symptoms of severe left hypochondrium pain associated with high-grade fever, gross abdominal distension and recurrent vomiting. Two months earlier, metastasis was observed to have spread to the stomach and inguinal lymph nodes. At this stage, the patient opted for traditional medication instead of definitive surgery and chemotherapy. Radiological imaging revealed an emphysematous change to the stomach which was radiologically consistent with gastric malignant melanoma. Unfortunately, the patient succumbed to this rare condition.


Subject(s)
Emphysema , Melanoma/pathology , Skin Neoplasms/pathology , Stomach Neoplasms , Stomach/pathology , Diagnosis, Differential , Emphysema/diagnosis , Emphysema/etiology , Fatal Outcome , Female , Gastritis/diagnosis , Gastritis/etiology , Gastritis/physiopathology , Humans , Lymphatic Metastasis/pathology , Middle Aged , Neoplasm Staging , Patient Care Management/methods , Stomach Neoplasms/complications , Stomach Neoplasms/physiopathology , Stomach Neoplasms/secondary , Tomography, X-Ray Computed/methods
19.
Rev. bras. neurol ; 56(3): 21-24, jul.-set. 2020. ilus
Article in Portuguese | LILACS | ID: biblio-1120507

ABSTRACT

O infarto da artéria de Percheron é uma apresentação rara de acidente vascular cerebral, caracterizado principalmente por isquemia talâmica bilateral. A apresentação clinica desse infarto se apresenta de maneira inesperada e variável. Relata-se um caso de um paciente masculino, idoso, acometido por diversas comorbidades, admitido na emergência em coma e hemiplégico a direita, demonstrando acometimento neurológico. A condição clínica do paciente variou durante a hospitalização, apresentando melhora do quadro neurológico focal e midríase fixa à direita, levando a um diagnóstico tardio. Paciente evoluiu ao óbito devido a causas não neurológicas.


The artery of Percheron infarct is a rare presentation of stroke, featured mainly by thalamic bilateral ischemia. The clinical presentation of this infarct is unexpected and variable. It's reported a case of a male patient, elderly, affected with several comorbidities, admitted to the emergency in comatose state and right hemiplegic, proving neurological involvement. The patient's clinical condition has fluctuated throughout the hospitalization presenting improvement of the focal neurologic implication and right mydriasis, culminating in a lagged diagnosis. Patient's death due to non neurologic causes.


Subject(s)
Humans , Male , Aged , Cerebral Infarction/diagnostic imaging , Thalamus/blood supply , Thalamus/diagnostic imaging , Tomography, X-Ray Computed , Comorbidity , Risk Factors , Fatal Outcome
20.
BMC Infect Dis ; 20(1): 635, 2020 Aug 26.
Article in English | MEDLINE | ID: mdl-32847524

ABSTRACT

BACKGROUND: Data regarding the prevalence of metallo-ß-lactamases (MBLs) among Pseudomonas aeruginosa isolates in cystic fibrosis patients are scarce. Furthermore, there is limited knowledge on the effect of MBL production on patient outcomes. Here we describe a fatal respiratory infection due to P. aeruginosa producing VIM-type MBLs in a lung transplant recipient and the results of the subsequent epidemiological investigation. CASE PRESENTATION: P. aeruginosa isolates collected in the index patient and among patients temporally or spatially linked with the index patient were analyzed in terms of antibiotic susceptibility profile and MBL production. Whole-genome sequencing and phylogenetic reconstruction were also performed for all P. aeruginosa isolates producing VIM-type MBLs. A VIM-producing P. aeruginosa strain was identified in a lung biopsy of a lung transplant recipient with cystic fibrosis. The strain was VIM-1-producer and belonged to the ST308. Despite aggressive treatment, the transplant patient succumbed to the pulmonary infection due to the ST308 strain. A VIM-producing P. aeruginosa strain was also collected from the respiratory samples of a different cystic fibrosis patient attending the same cystic fibrosis center. This isolate harbored the blaVIM-2 gene and belonged to the clone ST175. This patient did not experience an adverse outcome. CONCLUSIONS: This is the first description of a fatal infection due to P. aeruginosa producing VIM-type MBLs in a lung transplant recipient. The circulation of P. aeruginosa isolates harboring MBLs pose a substantial risk to the cystic fibrosis population due to the limited therapeutic options available and their spreading potential.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Lung Transplantation , Pseudomonas Infections/drug therapy , Pseudomonas aeruginosa/enzymology , Respiratory Tract Infections/drug therapy , Transplant Recipients , Adult , Cystic Fibrosis/surgery , Drug Resistance, Multiple, Bacterial/drug effects , Fatal Outcome , Female , Humans , Lung/microbiology , Lung/pathology , Microbial Sensitivity Tests , Phylogeny , Pseudomonas Infections/microbiology , Pseudomonas aeruginosa/isolation & purification , Respiratory Tract Infections/microbiology , beta-Lactamases/genetics , beta-Lactamases/metabolism
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