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Akt is activated via insulin/IGF-1 receptor in rat retina with episcleral vein cauterization.

The Akt serine/threonine kinase mediates pro-survival signalings in retina and was reported to be activated in a response to some retinal and optic nerve injuries. Human and experimental glaucoma induce apoptosis of retinal ganglion cells (RGCs). The purpose of this study is to test whether episcleral vein cauterization (EVC) to chronically elevate intraocular pressures (IOPs) in rats increase apoptosis of RGCs and affect activation of Akt and its upstream insulin-like growth factor (IGF)-1 receptor/Insulin receptor. Three episcleral veins in left eyes of Sprague-Dawley rats were cauterized to…

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in

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… years : Asthenia, increased aminotransferases, arthralgias Melanodermia, diabetes, heart disease, hypogonadism ↑CST, ↑serum ferritin | MCP of the 2nd and 3rd fingers Chondrocalcinosis | Therapeutic bloodletting Alkaptonuria-ochronosis | HGD | Autosomal recessive | Onset after 30–40 years : Bluish nose, sclera … Other clinical aspects suggestive of AKU are dark-colored urine when alkalized or oxidized in air, bluish discoloration of the nose, ears and sclera. Ear examination can lead to the diagnosis when it discloses a contrast between a black tympanic membrane and discolored pale cerumen. …

Успешное долговременное лечение педиатрического релапсирующего идиопатического оптического нерита с Mycofonate Mofetil.

Фон: Педиатрический оптический неуриит (НН) является редким, но тяжелым заболеванием, характеризующимся острыми нарушениями зрения, при этом 3-5% случаев повторного защелки не имеют идентифицируемых маркеров сопутствующих заболеваний, таких, как нервно-оптическое расстройство спектра (NMOSD) или множественный склероз (MS); таким образом, эти случаи классифицируются как повторный идиопатический оптический неуриит (RION). Кортикостероиды, как правило, используются для острого лечения; однако их продолжительное применение в отношении детей сопряжено с серьезными рисками, включая ожирение в центре

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… There was no evidence of involvement beyond the optic nerve, including the uvea, sclera, cornea, conjunctiva, or chorioretina. Optical coherence tomography (OCT) demonstrated pronounced bilateral optic disc swelling, predominantly affecting the right eye. …

Exploring the FGF/FGFR System in Ocular Tumors: New Insights and Perspectives.

Ocular tumors are a family of rare neoplasms that develop in the eye. Depending on the type of cancer, they mainly originate from cells localized within the retina, the uvea, or the vitreous. Even though current treatments (e.g., radiotherapy, transpupillary thermotherapy, cryotherapy, chemotherapy, local resection, or enucleation) achieve the control of the local tumor in the majority of treated cases, a significant percentage of patients develop metastatic disease. In recent years, new targeting therapies and immuno-therapeutic approaches have been evaluated. Nevertheless, the search for nov

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… The outer protective layer is constituted by the fibrous coat, which includes the transparent cornea and the opaque sclera; it helps to maintain intraocular pressure and provides an attachment site for intraocular muscles. … Conjunctival melanoma comprises approximately 5% of all ocular melanomas and it arises from melanocytes located in the basal layer of the conjunctival epithelium, which lines the eyelids and the sclera [ 12 , 23 ]. In rare cases, tumors might grow and extend toward the orbit or into the globe. …

Rare diseases: a challenge in paediatric dentistry.

Rare diseases are an often an overlooked public health problem. Although they are infrequent, occurring on average in 100-500 people per mil … severity (mainly fractures, hyperlaxity, and ligament deformities) and extra skeletal signs (bluish sclera, deafness, vascular fragility). It may also involve dentinogenesis imperfecta. The severity of clinical manifestations is highly variable, ranging from moderate forms that can go unnoticed to major forms that are lethal in the perinatal period. The …

A cervical spine metastasis of a hepatocellular carcinoma: a rare presentation.

BACKGROUND: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related mortality globally, with bone metastases signifying advanced disease and a poor prognosis. Although bone metastases in HCC are relatively uncommon, they present significant diagnostic and therapeutic challenges. We present a rare case of cervical spine metastasis as a presenting feature of HCC progression, highlighting the need for timely diagnosis and multidisciplinary care. CASE PRESENTATION: A 55-year-old North African female with a history of hepatitis C-related cirrhosis, successfully treated with antiviral t

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… Her initial physical examination revealed a good general health status (ECOG-PS 0), anicteric sclera, and normal blood pressure. She had no clinical ascites or abdominal tenderness. Additionally, no peripheral lymph nodes or organomegaly were observed. …

Successful treatment of hemophagocytic syndrome in a patient with T cell lymphoma, EBV infection, and bone marrow necrosis: A case report.

RationaleHemophagocytic syndrome (HPS) is associated with a high mortality rate, and Epstein-Barr virus infection and hematological malignancies, especially T/natural killer cell lymphomas, are the most common causes; however, due to the complexity of clinical manifestations, the diagnosis is usually delayed. There are few reports of lymphoma-associated HPS (LAPS) in combination with bone marrow necrosis, and there is still no standard treatment for LAPS.Patient concernsA 64-year-old man developed a fever, mild jaundice, fatigue, and bone pain. Positron emission tomography and bone marrow biop

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… On physical examination, he was febrile (39.9°C), with pallor, jaundice of the skin and sclera, lower extremity edema, and severe backache. The spleen was located 3 cm below the left costal margin, and there was no palpable lymphadenopathy. …

Стрессивая симметрия: паралич двустороннего Белла, потенциально вызванный экстремальным стрессом.

Лица с нервыми (FNP) идиопатического происхождения обычно называются параличом Белла. Двусторонний ФНП представляет собой исключительно редкую подгруппу всех дел, связанных с параличом Белла. Она может проявляться либо синхронно, либо последовательно, с одной стороны, с другой стороны, с последующим участием противоположной стороны в течение первых 30 дней с момента возникновения симптома. Обычные этиологии ФНП охватывают такие инфекции, как инфекционный мононуклеоз, грипп, болезнь лайма и менингит. Неинфекционные причины включают в себя новообразования, множественный склероз и синдром Гильен-

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… When asked to close his eyes, he was unable to close the eyelids fully, and the sclera remained visible. He also had drooping of the angle of the mouth bilaterally. These findings were more pronounced on the right side. …

A Case of AL Amyloidosis With Hepatomegaly as the Main Clinical Manifestation.

Light chain (AL) amyloidosis presenting predominantly with hepatomegaly is a rare and frequently misdiagnosed condition. While clinical features are non-specific, elevated ALP/GGT should raise suspicion. A liver biopsy remains the gold standard for diagnosis. Although there is no disease-specific therapy for hepatic amyloidosis, timely chemotherapy initiation-particularly monoclonal antibody-based regimens-can significantly improve prognosis and lead to symptom resolution.

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… By physical examination, the patient was of slim build (BMI 18.8 kg/m 2 ), with no evidence of jaundice in the skin or sclera. The liver was palpably enlarged below the costal margin, presenting as firm, with regular borders and no tenderness, pulsation, or percussion pain. …

Автосоматический синдром снотворного синдрома спящей апноэ из-за нового варианта c.980_984dup в COL1A2: A Case Report.

Осложненный синдром апноэ (OSAS) — сложное расстройство, характеризующееся коллапсом верхних дыхательных путей во время сна. Хотя история семьи часто свидетельствует о наследственной предрасположенности к ОСУС, нет никаких доказательств того, что это на самом деле моногенное расстройство. До настоящего времени не было описано ни одного случая, когда пациент с наследственным OSA из-за патогенной мутации в цепи коллагенов типа I альфа-2 (COL1A2). Пациенткой была 72-летняя женщина, которая страдала бессонницей с 35 лет. С тех пор ОСУС подозревалось, но было подтверждено только в возрасте 67 лет п

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… However, it can be surmised that the phenotypic abnormalities of the COL1A2 variants are related to the function of the COL1A2 protein in the formation of type I collagen, which is abundant in cartilage, bone, tendons, skin, and the sclera [ 19 ]. …

Extracorporeal membrane oxygenation as bridge-to-decision in acute heart failure due to systemic light-chain amyloidosis.

PatientFemale, 58.Final diagnosisAcute hear failure.SymptomsDispnoea • edema • fatigue.Medication—Clinical procedureBone marrow biopsy • endomyocardial biopsy • abdominal subcutaneous fat biopsy under ECMO support.SpecialtyCardiology.ObjectiveRare disease.BackgroundCardiac amyloidosis results from the amyloid deposition in heart tissue, either in the context of a systemic disease or as a localized form. Several pro-amyloid proteins can produce amyloid deposits in the heart. Each of these amyloidoses has characteristic clinical (cardiac and extracardiac) features, and a specific diagnosis and t

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… The sclerae were anicteric, mucous membranes were moist, and the oropharynx was clear. The neck was supple, with no lymphadenopathy or thyromegaly. Carotid pulses were normal, without bruits. Jugular turgescence was markedly visible at 45° neck elevation. …

Hypophosphatasia: Clinical Clues and Management Considerations.

This case report identifies typical manifestations of a patient with hypophosphatasia, a rare genetic condition in which mutations in tissue-non-specific alkaline phosphatase (TNSALP) enzymes cause low levels of alkaline phosphatase and defective bone mineralization. It explores common diagnostic clues from the history and laboratory evaluation, which can help clinicians identify the disorder. This case introduces a 49-year-old patient with a long history of fractures and dental abnormalities who was referred to endocrinology for evaluation of osteopenia. Further review of her laboratory data

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… She had a normal musculoskeletal range of motion and strength and a normal sclera. Her laboratory studies were most notable for a low alkaline phosphatase level with additional previously low measurements and mildly low vitamin D levels (Table 1 ). …

The Use of Bone Marrow Transplantation (BMT) or Hematopoietic Stem Cell Transplantation (HSCT) in Pediatric Patients Diagnosed With Ataxia-Telangiectasia: A Systematic Review.

Ataxia-telangiectasia (A-T) is a rare neurological disorder that leads to early death due to immunodeficiency, leukemia, and lymphoma. Given the underlying immune dysfunction and predisposition to hematologic cancers, bone marrow transplantation (BMT) or hematopoietic stem cell transplantation (HSCT) has emerged as a potential therapeutic strategy in pediatric patients with A-T. Therefore, longer follow-ups are needed to assess associated risks, side effects, procedures, and eligibility criteria. This systematic review aims to fill this gap by consolidating evidence from different parts of the

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… A key clinical feature of A-T is progressive neurodegeneration that leads to extreme disability and telangiectasias of the sclera and skin [ 2 ]. Moreover, A-T exposes a patient to increased susceptibility to malignancies that affect 25% of patients with a median age of 12.5 [ 3 ]. …

Donor Evaluation for Hematopoietic Stem and Progenitor Cell Collection

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… Had a transplant or graft from someone other than yourself, such as organ, bone marrow, stem cell, cornea, sclera, bone, skin or other tissue? 12. Had sexual contact with anyone who has HIV/AIDS or has had a positive test for the HIV/AIDS virus? 13. … Had a transplant or graft from someone other than yourself, such as organ, bone marrow, stem cell, cornea, sclera, bone, skin or other tissue? | | 12. Had sexual contact with anyone who has HIV/AIDS or has had a positive test for the HIV/AIDS virus? | | 13. …

Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the Field.

POEMS syndrome-characterized by polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes-is an uncommon and complex paraneoplastic disorder encompassing a diverse array of symptoms. Here we report the challenging case of a 34-year-old female who sought medical attention at the emergency department due to distal lower limb weakness. She was breastfeeding her first child at that time. Her condition rapidly deteriorated, making it difficult for her to perform simple tasks independently. Initially, she struggled with activities like jumping or climbing stairs. Eventually, her abil

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… 8.22 μU/mL | 0.2–4.3 μU/mL fT3 | 1.9 ng/L | 2.0–5.0 ng/L Brain magnetic resonance imaging (MRI) revealed indirect signs of intracranial hypertension, including optic nerve tortuosity with sheath enlargement and intraocular protrusion of the optic nerve head, along with flattening of the posterior sclera …

Дилопия и экстремальная гиперамиласемия>100,000 U/L) Провозглашение агрессивного поведения ИгГ каппы миэломы: доклад о деле и обзор литературы.

RATALE: Хотя производство амилазы эпителиальными опухолями было хорошо задокументировано, его связь с множественной миеломой (ММ) является крайне редкой, о чем сообщалось лишь ограниченное число случаев. Кроме того, насколько нам известно, информация о бинокльной диплопии в качестве известной и первичной клинической функции у пациентов с MM и одновременно гиперамиласемией не получила широкого распространения. ОЗАБОЧЕННОСТЬ: В настоящем докладе содержится описание 75-year-old человек с иммуноглобулином G kappa MM, поражающим диплопию и экстремальную гиперамиласемию ()>100,000 U/L) с нормальным

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… pressure 125/65 mm Hg, height 170 cm, weight 66 kg, and body mass index 22.8 kg/m 2 ; second, general appearance: normally and well developed, cooperative in the examination, with moderate mental status; third, skin findings: no palpable superficial lymphadenopathy, no significant jaundice on the skin and sclera …

Malignant Melanoma Bone Metastasis With Unknown Primary Site: A Case Report and Literature Review.

IntroductionCases of malignant melanoma first identified in bone are relatively uncommon. Approximately 4.3% of the patients will have metastasis, among which 23% will have metastasis to the bone.Case presentationThis article presents a case involving malignant melanoma with a metastatic lesion located at the distal femur, which was the initial symptom observed. The patient was a 21-year-old male who was admitted to the hospital due to intermittent pain in his lower left thigh. Imaging studies indicated bone destruction in the distal left femur, and pathological and immunohistochemical confirm

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… Physical Examination No black patches or moles were observed on the patient′s entire skin (including the perineum and perianal area), and the conjunctiva of the eyes showed no congestion or pathological changes, the sclera showed no yellowing, the cornea was transparent, there were no opacities, white …

Cutaneous Squamous Cell Carcinoma Producing Granulocyte Colony-stimulating Factor and Parathyroid Hormone-related Protein: A Case Report and Literature Review.

We herein report a case of cutaneous squamous cell carcinoma (SCC) characterized by paraneoplastic hypercalcemia-leukocytosis syndrome. The patient presented with systemic symptoms, including anorexia, a fever, and a tumoral lesion on the upper arm. Laboratory test results revealed hypercalcemia and leukocytosis. A tissue biopsy confirmed SCC, and further investigation revealed elevated parathyroid hormone-related protein (PTHrP) and granulocyte-colony stimulating factor (G-CSF) levels. Immunostaining demonstrated G-CSF production by the tumor cells. Radiation therapy was administered, which i

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… The patient did not have pallor in the conjunctiva or jaundice in the sclera. He was lethargic and had a slightly dry mouth. The results of cardiac, respiratory, and abdominal examinations were unremarkable. The laboratory test results on admission are summarized in Table 1 . …

Burden, Outcome, and Comorbidities of Extrahepatic Manifestations in Hepatitis B Virus Infections.

Hepatitis B virus (HBV) infections affect approximately 296 million people around the world, and the prevalence of any past or present HBV infection during the years 2015-2018 was as high as 4.3%. Acute HBV infection often presents with nonspecific symptoms and is usually self-limited, but 5% of patients can have persistent infections leading to chronic HBV infection and the risk of turning into chronic HBV infection is significantly higher in babies with vertical transmission (95%). Patients with chronic HBV infection are usually asymptomatic, but 15 to 40% of chronic HBV carriers develop cir

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… Uveitis Uveitis is inflammation of the uvea, a vessel-rich layer of the eye positioned between the sclera and retinal pigmented epithelium, which consists of the choroid, ciliary muscle, and iris. … Anterior uveitis, or iritis, can present with erythema at the limbus, the junction between the cornea and the sclera, and these patients often have miotic pupils and pain. …