Haugaardovergaard7010

This clinical case reports the use of paliperidone palmitate 3-monthly long-acting injection during pregnancy without known adverse effects on the baby's development.Sandhoff disease is one of the GM2-gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2-ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in controls.Primary cutaneous EBV-positive diffuse large B-cell lymphoma is an exceptional and aggressive neoplasia with a poorer prognosis than other cutaneous lymphoma. Our observation points out the rarity of the presentation and the dismal clinical course.On findings of restricted diffusion in a bilateral pontine infarct, imaging solely may not predict a poor clinical outcome as a full motor recovery is possible. Hence, recanalization of an acutely occluded basilar artery should be carefully considered on a case by case basis.Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome can have insidious symptoms which may lead to acute liver failure and death. Prompt recognition, stopping offending drug, and initiating corticosteroid are the mainstay of treatment. Early involvement of a specialist liver unit is vital.In two cases, cell-based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.Thoracic duct injury is a rare complication of dorsal spine operations. Ultrasound chest plays an important tool for rapid diagnosis of acute dyspnea, drainage of massive effusion, and daily follow-up. Conservative treatment of postoperative chylous with measures to decrease chylous formation can lead to a resolution of chylothorax.This report describes an isolated superior gluteal nerve injection injury following a corticosteroid injection for greater trochanteric pain syndrome. Ultrasound-guided injections may be beneficial to target multiple pain-producing regions of the hip while avoiding nerves and tendons.We reported dental and craniofacial characteristics of an SJS patient with severe OSA. Not only does the syndrome cause skeletal abnormalities and myotonia, but it also affects the craniofacial development resulting in a severe constriction of maxillary arch and bimaxillary retrognathia which may increase a risk to develop pediatric OSA.It is difficult to differentiate between TINU syndrome and sarcoidosis in young people with renal abnormalities and ocular lesions. Since the spontaneous prognosis of interstitial nephritis is different between the two, it was considered necessary to actively conduct tests for differentiation.Maternal diet before and during pregnancy plays an important role for the developing fetus. Any eating disorder in this period can cause transient or/and permanent negative effects on the mother and her offspring.There is a clinical overlap between hypervascularized sarcomas and arteriovenous malformations (AVM). MRI imaging should be interpreted with caution keeping in mind that some cancers could mimic AVM. A biopsy is mandatory in doubtful cases.Fever and deranged transaminases with liver mass(es) on imaging mandates further evaluation of the mass(es) and should be followed radiologically and clinically. In the absence of a definitive diagnosis, repeat biopsy should be done.Despite the little information about the facial papules due to Lichen planopilaris (LPP), we have many cases with facial skin roughness in which histological study has showed LPP. Additionally, in those patients treating for frontal fibrosing alopecia or scalp LPP there was no improvement in facial papules.We describe a patient who presented with erythematous papules and hair loss solely limited to the eyebrows. Clinicians should be aware of this presentation of leukemia cutis and consider this diagnosis in a patient with a history of CLL.We report a case of metastasis to the gingiva of breast carcinoma. The breast tumor was treated with neoadjuvant chemotherapy followed by a radical mastectomy associated with axillary dissection. The gingival lesion occurred 7 months after surgery; the metastasis was confirmed by a biopsy.The Chinese Center for Disease Control and Prevention reported 80% of coronavirus infections were mild cases; hence, most cases will be managed in an outpatient setting. COVID-19 is associated with a hypercoagulable state; therefore, further research should be done on outpatient use of anticoagulation for VTE/PE prophylaxis in these patients.Intrahepatic cholangiocarcinoma masquerading as liver abscess, and presenting with fever, is a very rare situation and should be considered in nonresolving liver abscess. Only few cases were reported in the literature. This entity is characterized by late diagnosis and poor prognosis.Dental trauma can result in different kinds of injuries based on the extent, direction, and location of the impact. Multidisciplinary management of traumatized teeth is critical for successful treatment and improvement of the prognosis.Solitary osseous plasmacytomas affecting the vertebrae, the zygomatic arch, and ribs occur in dogs. In this report, we describe clinical and imaging features of a solitary osseous plasmacytoma affecting the skull with deposition of amyloid forming a mass-like lesion. To the authors' knowledge, no similar cases have been reported before.The intrathoracic sewing needle is an exceedingly rare condition mildly documented in the literature. Given the needle's tendency to migrate, it must be removed as soon as possible, and the minimally invasive technique should be tried first.Patients who develop brain abscesses must be evaluated through a complete set of diagnostic tests including a microbiological and clinical periodontal assessment. A genetic comparison of the pathogens from intracranial/extracranial sites is necessary.In cases of recurrent attacks of acute porphyria during pregnancy, prophylactic administration of heme arginate should be considered. Clinical and biochemical monitoring of the disease and a close collaboration with a porphyria center are crucial.In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.Consideration of unexpected metastasis in patients who have undergone neck dissection with advanced tumors must be anticipated with careful follow-up.We present a 61-year-old man with severe myasthenia gravis, nonresponsive to conventional therapy. The patient was treated with individualized homeopathy, demonstrating significant improvement on his clinical status and no disease symptoms.Mediastinal tumors may cause a wide range of symptoms; therefore, it should be considered in the differential diagnosis, after excluding common causes, when dealing with pulmonary and cardiac symptoms such as dyspnea or even mitral regurgitation. The most common site of the desmoid tumors is the abdomen, but in very rare cases, it can be located in the mediastinum.SJS-TEN is life-threatening autoimmune disorder triggered due to drugs such as analgesics, antibiotics, anticonvulsants, and antipsychotics. This report provides awareness to the Clinicians regarding prescription of drugs which cause SJS-TEN. Among young females of 20-40 years, screening for previous history, issuing drug alert cards, and preventing OTC prescriptions decreases mortality.Children with Down syndrome and severe intellectual disability have difficulties in learning a language. Enhanced learning procedure, including mora segmentation is beneficial to understand letter-sound correspondence in such children.A routine change in the automatic capture management algorithm from "adaptive" to "off or monitor" is required to conserve device longevity in a permanent pacemaker with His-bundle pacing.A malignant pheochromocytoma with IGF-II-mediated hypoglycemia is reported; although treatment was cumbersome and evolution unfortunate, this diagnosis must be kept in mind when dealing with NICTH's differential diagnosis.A glomus tympanicum with chronic infectious otorrhea should have a lower threshold for surgical exploration as an occult cholesteatoma may be present in a location difficult to diagnose without performing a tympanomastoidectomy.The diagnosis of vertebral sarcoidosis can be challenging. Besides, there is no consensus for the treatment of these lesions. Exceptionally, lesions may show spontaneous regression. To our knowledge, there are only two case reports of spontaneous resolution of vertebral sarcoidosis documented by follow-up MRI. Herein, we present a third case.CD30-positive large cell transformation that occurs in early mycosis fungoides potentially possesses characteristics of spontaneous regression as with CD30-positive lymphoproliferative disorders. Such transformation may not relate to poor prognosis.Foreign body ingestion should be considered as an important differential in a child with difficult asthma. We report an 11-year-old male child with foreign body aspiration who initially was diagnosed and treated as difficult asthma. Later on, he was diagnosed to have a foreign body in the right bronchus, which was successfully removed by flexible bronchoscopy.We report a case of fenpyroximate poisoning with cholinergic signs that could be due to mixing it with anticholinesterase. Clinicians should consider co-ingestion of pesticides to proper diagnosis and management of the pesticide poisoning.EN is a hamartomatous proliferation of keratinocytes. The most common dermoscopic feature of EN is large brown circles in the absence of pigment network which is similar in different histopathological variants including epidermolytic hyperkeratotic.Nonleukemic variant of HTLV-1-associated adult T-cell leukemia lymphoma (ATLL) is a rare variant, and herein, we describe a case with strong and diffuse positivity of neoplastic cells for CD30. Even though ATLL is aggressive entity with poor prognosis, in our case, there was very good clinical response achieved with brentuximab-containing regimen. Therefore, HTLV-1-associated ATLL can be included in the differential diagnostic approach of CD30-positive lymphoproliferative disorders.Oncocytic adenolipoma is a rare tumor to occur in the salivary gland, which can present as a giant neck mass. Until now, less then 20 such cases are reported. We report this rare case for surgeons to consider it as one of the differential diagnoses.This case report describes an alternative approach for the planning of immediate implant placement and provisionalization, which uses a new online dental software that predicts the esthetic outcome.In patients presenting with persistent anemia and gastric cardia telangiectasias, a potential etiology of portal hypertension due to chronic liver disease, especially primary biliary cirrhosis, should be considered. Drugs for treating specific liver disease and lowering portal hypertension are effective strategies to prevent hemorrhage.Pulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation for DICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is a pleuropulmonary blastoma, or other clinical manifestations of this syndrome are present or develop.