scholarly journals Familial association of pseudohypoparathyroidism and psoriasis: case report

2002 ◽  
Vol 120 (1) ◽  
pp. 23-27 ◽  
Author(s):  
Renan Magalhães Montenegro Junior ◽  
Francisco José Albuquerque de Paula ◽  
Norma Tiraboshi Foss ◽  
Milton Cesar Foss
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Soft Tissues ◽  
White Male ◽  
Elevated Serum ◽  
Clinical Signs ◽  
Ionized Calcium ◽  
Total Calcium ◽  
Short Neck ◽  
History Of

CONTEXT: The association between psoriasis and hypoparathyroidism has been reported by several authors, and it has been suggested that abnormalities in calcium homeostasis may be involved in the development or exacerbation of psoriasis. However, so far there have only been two reports of pseudohypoparathyroidism associated with psoriasis. OBJECTIVE: To describe the familial occurrence of this association for the first time. CASE REPORTS: Two siblings with psoriasis associated with pseudohypoparathyroidism were presented. The first patient was a 24-year-old white male with disseminated erythrodermic pustular psoriasis that began 2 months before admission. He had had a history of mental retardation, recurrent otitis, seizures and arthralgia from the age of 11 years onwards. He presented the characteristic phenotype of Albright osteodystrophy: short stature, obesity, round facies, broad forehead, short neck and brachydactylia. He adopted a position of flexed limbs and showed proximal muscle weakness and a positive Trousseau sign. He had clinical signs of hypocalcemia (0.69 mmol/l ionized calcium and 3.2 mg/dl total calcium), hyperphosphatemia (6.6 mg/dl), hypomagnesemia (1.0 mEq/l), hypoalbuminemia (3.1 g/dl), normal serum intact PTH levels (45.1 pg/ml), primary hypothyroidism (13.2 mU/ml TSH, and 4.7 mg/dl total T4), hypergonadotrophic hypogonadism (116.0 ng/ml LH, 13.2 mU/ml FSH and 325.0 ng/dl testosterone), osteoporosis, and diffuse calcifications in soft tissues and in the central nervous system. The second case was a 14-year-old white girl with a history of psoriasis vulgaris from the age of five years onwards, and antecedents of mental retardation. She presented signs of Albright osteodystrophy (short stature, round facies, obesity, short neck, brachydactylia), hypocalcemia (ionized calcium of 1.08 mmol/l and total calcium of 6.7 mg/dl) hyperphosphatemia (9.4 mg/dl), elevated serum PTH levels (223.0 pg/ml), osteoporosis, and hypergonadotrophic hypogonadism (7.0 mU/ml LH, 9.3 mU/ml FSH and undetectable estradiol levels).

scholarly journals Malignant tumor of the peripheral nerve sheath in a left Whippet canine kidney

2020 ◽  
Vol 48 ◽  
Author(s):  
Rosemar De Almeida Freitas ◽  
Mário Dos Santos Filho ◽  
Simone Neves De Campos ◽  
Luciana Martins Corrêa ◽  
Wagner Tavares Silveira De Carvalho ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Soft Tissues ◽  
Ultrasound Examination ◽  
Left Kidney ◽  
Abdominal Cavity ◽  
Bladder Wall ◽  
Clinical Signs ◽  
Histopathological Analysis ◽  
Nerve Sheath ◽  
History Of

Background: Malignant tumors of the peripheral nerve sheath (MTPNS`s) are considered rare tumors that can affect soft tissues. In dogs, the occurrence is more common in the nerves of the brachial plexus, but they can affect the lumbosacral plexus and cranial nerves. Rarely, they can affect spinal nerves and nerve roots and the urinary tract, especially in kidneys. The present report aims to describe a clinical case of a 10-year-old sterilized female whippet, who had a history of persistent hematuria for months, with subsequent diagnosis of MTPNS as the cause of hematuria.Case: The patient came for evaluation with a history of persistent hematuria. Evaluation of abnormal elements and sedimentation, showed the description of numerous red blood cells and the presence of proteinuria. The abdominal ultrasound revealed a left kidney with enlarged dimensions, irregular contour, loss of corticomedullary definition. The urinary vesicle showed an increase in cellularity. On physical examination, the patient had vital parameters within the normal range. A Snap 4DX® Plus exam was requested, which showed a reaction for Dirofilaria immitis. With this result, it was initially suspected that renal vasculitis. After starting the treatment, the patient started to present normal colored urine. However, after the end of this period, the patient returned to hematuria. After six months of treatment and without justification for the permanence of hematuria, urethrocystoscopy was indicated, which revealed a urinary vesicle with a hemorrhagic focus. A urinary bladder wall biopsy was performed, which showed no changes. Four months after the urethrocystoscopic exam, the patient had her first azotemic crisis. This time that the left renal neoformation observed on ultrasound examination. With the discovery of the origin of the problem, a therapeutic approach could be instituted, consisting of the left nephrectomy. The histopathological analysis showed malignant spindle cell neoplasia. Immunohistochemical analysis in peroxidase revealed positivity for the markers, concluding the diagnosis as a tumor of the peripheral nerve sheath. Seven months after surgery, a new ultrasound examination of the abdominal region, as well as tests for the assessment of renal function, all of which were within normal parameters.Discussion: Most of the MTPNS originate in the peripheral nerves and in the cranial nerve sheath, but it can rarely originate in the abdominal cavity, as in the case reported here, in which the origin was renal. Such neoplasms are not common in dogs, with an incidence of 0.5%. The age of the affected dogs is, on average, nine years for the appearance of the neoplasia, with females with the highest frequency of occurrence. Both data corroborate the patient's age at the time of diagnosis. This is a tumor that is considered to be highly malignant and progressive, which did not occur in the patient in question, since she had a history of persistent hematuria for a long period, with no manifestation of the presence of the tumor on imaging. Still regarding the clinical manifestation of the patient's persistent hematuria, the same occurrence can be observed in a human patient who also reported a history of persistent hematuria and, like the patient in the report, not associated with any other clinical signs. It is important to differentiate this type of neoplasia from the others, because in many cases, the histological patterns are similar, making the performance of immunohistochemistry essential for the diagnosis. Renal MTPNS is rare in humans, and in dogs it is no different. This fact makes it difficult to describe the prognosis. Thus, efforts should be considered for the early diagnosis of peripheral nerve neoplasms, in view of their low response to available halopathic treatments and taking into account the rare aspect and evolution of this disease.

scholarly journals THYROID ACROPACHY: A RARE MANIFESTATION OF GRAVES DISEASE IN JOINTS

2019 ◽  
Vol 5 (6) ◽  
pp. e369-e371 ◽  
Author(s):  
Nicolas Perini ◽  
Roberto Bernardo Santos ◽  
João Hamilton Romaldini ◽  
Danilo Villagelin
Keyword(s):  
Elevated Serum ◽  
Clinical Signs ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Free T4 ◽  
Tissue Edema ◽  
Rare Manifestation ◽  
Small Joint ◽  
History Of ◽  
Hands And Feet

Objective: The objective of this report was to describe a patient with Graves acropachy, a rare manifestation of Graves disease (GD) that is clinically defined by skin tightness, digital clubbing, small-joint pain, and soft tissue edema progressing over months or years with gradual curving and enlargement of the fingers. Methods: The patient was evaluated regarding thyroid function (serum free T4 [FT4] and thyroid-stimulating hormone [TSH] quantifications) and autoimmunity biomarkers (thyroid receptor antibody [TRAb]) as well as radiographic investigation of the extremities. Results: A 52-year-old man presented with a history of thyrotoxicosis and clinical signs of Graves orbitopathy. Laboratory tests showed suppressed TSH (0.01 UI/L; normal, 0.4 to 4.5 UI/L) and elevated serum FT4 (7.77 ng/dL; normal, 0.93 to 1.7 ng/dL), with high TRAb levels (40 UI/L; normal, <1.75 UI/L). A diagnosis of thyrotoxicosis due to GD was made and the patient was treated with methimazole. After the patient complained of swelling in hands and feet, X-ray evaluation was conducted and established the thyroid acropachy. Conclusion: We present a case of a patient with GD associated with worsening extrathyroid manifestations during orbitopathy, dermopathy, and developed acropachy in hands and feet.

scholarly journals Hyperparathyroidism in Pregnancy Leading to Pancreatitis and Preeclampsia with Severe Features

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Andrew G. Dale ◽  
Bradley D. Holbrook ◽  
Lauren Sobel ◽  
Valerie J. Rappaport
Keyword(s):  
Diabetes Mellitus ◽  
Calcium Level ◽  
Diabetes Mellitus Type 2 ◽  
Elevated Serum ◽  
Ionized Calcium ◽  
Total Calcium ◽  
Parathyroid Hormones ◽  
Increased Risk ◽  
In Pregnancy

Background. Hyperparathyroidism is underdiagnosed in pregnancy, yet early diagnosis is necessary for the potentially severe sequelae of hypercalcemia for both the woman and fetus.Case. A 31-year-old, gravida 3, para 0-0-2-0 at 32 weeks and 3 days of gestation, presented with preeclampsia with severe features concomitant with acute pancreatitis and known diabetes mellitus type 2. She was stabilized and delivered. In the postpartum period, her total calcium level remained elevated. Ionized calcium levels and parathyroid hormone levels were also elevated, and she was diagnosed with hyperparathyroidism.Conclusion. Hyperparathyroidism and hypercalcemia are risk factors for pancreatitis. Women who develop pancreatitis during pregnancy are at increased risk of developing preeclampsia. If elevated serum calcium is noted, it should be confirmed with ionized calcium level and parathyroid hormones as ionized calcium levels are unaffected by pregnancy.

Congenital Feline Hypothyroidism With Partially Erupted Adult Dentition in a 10-Month-Old Male Neutered Domestic Shorthair Cat: A Case Report

2018 ◽  
Vol 35 (3) ◽  
pp. 178-186 ◽  
Author(s):  
Teresa Jacobson ◽  
Judy Rochette
Keyword(s):  
Case Report ◽  
Thyroid Hormone ◽  
Short Stature ◽  
Clinical Signs ◽  
Thyroid Stimulating Hormone ◽  
Permanent Dentition ◽  
Gingival Tissue ◽  
Short Neck ◽  
Hair Coat ◽  
Pendulous Abdomen

Congenital feline hypothyroidism was diagnosed in a 10-month-old kitten. The kitten appeared to have disproportionate dwarfism, with the clinical signs of incompletely erupted permanent dentition covered by thickened gingival tissue, short stature, a broad, flattened face, short neck, pendulous abdomen, kitten-like hair coat, and goiter. Hypothyroidism was confirmed with baseline T4, freeT4, and thyroid-stimulating hormone testing. The kitten was treated with thyroid hormone supplementation and monitored. The kitten appeared clinically like a normal healthy cat at 22 months of age on thyroid supplementation.

scholarly journals Hyperandrogenism associated with an ovarian remnant in a spayed female cat

2019 ◽  
Vol 5 (2) ◽  
pp. 205511691988569
Author(s):  
Sarah A Jones ◽  
Scott L Owens ◽  
Stephen J Birchard
Keyword(s):  
Elevated Serum ◽  
Clinical Signs ◽  
Exploratory Laparotomy ◽  
Stimulation Test ◽  
Acth Stimulation Test ◽  
Acth Stimulation ◽  
Abdominal Ultrasonography ◽  
History Of ◽  
Hypoechoic Nodule

Case summary An 11-year-old female, reportedly spayed, domestic shorthair cat was examined for a 4-month history of weight loss, aggression, urine spraying, malodorous urine and estrus-like behavior. Physical examination revealed thickened skin, a mildly prominent vulva and confirmed malodorous urine. On abdominal ultrasonography, a 6 mm hypoechoic nodule was found in the left cranial abdomen. An adrenocorticotropic hormone (ACTH) stimulation test with adrenal panel revealed elevated serum concentrations of androstenedione and testosterone pre- and post-cosyntropin stimulation, mildly decreased cortisol pre- and post-cosyntropin stimulation, and decreased resting aldosterone. Exploratory laparotomy was performed and a cystic, nodular mass was found in the region of the left ovary. The mass was surgically removed and submitted for histopathology; results were conclusive for an ovarian remnant with an intact corpus luteum and non-neoplastic parovarian cysts. Previously observed clinical signs resolved within two weeks of ovariectomy. A follow-up ACTH stimulation test with adrenal panel 6 weeks postoperatively revealed normalization of serum androstenedione, testosterone and cortisol concentrations. Four years postoperatively, at the time of writing, the cat remains free of clinical signs. Relevance and novel information We are unaware of any previously reported cases of non-neoplastic ovarian remnants associated with clinically relevant hyperandrogenism. A non-neoplastic ovarian-dependent hyperandrogenism should be included as a differential diagnosis of spayed female cats showing aggression and urine spraying behavior.

Intraocular tuberculosis, a challenge in diagnosis and treatment

2020 ◽  
Vol 3 ◽  
pp. 4
Author(s):  
Martina Larroude ◽  
Gustavo Ariel Budmann
Keyword(s):  
Developing Countries ◽  
Clinical Signs ◽  
Steady Increase ◽  
Ocular Tuberculosis ◽  
Industrial Countries ◽  
Choroidal Granuloma ◽  
History Of ◽  
And Migration ◽  
Ocular Tb

Ocular tuberculosis (TB) is an extrapulmonary tuberculous condition and has variable manifestations. The incidence of TB is still high in developing countries, and a steady increase in new cases has been observed in industrial countries as a result of the growing number of immunodeficient patients and migration from developing countries. Choroidal granuloma is a rare and atypical location of TB. We present a case of a presumptive choroidal granuloma. This case exposes that diagnosis can be remarkably challenging when there is no history of pulmonary TB. The recognition of clinical signs of ocular TB is extremely important since it provides a clinical pathway toward tailored investigations and decision making for initiating anti-TB therapy and to ensure a close follow-up to detect the development of any complication.

Surgical management of choke through oesophagotomy in a buffalo: A case report

2017 ◽  
Vol 12 (3) ◽  
Author(s):  
Devasee Borakhatariya ◽  
A. B. Gadara
Keyword(s):  
Case Report ◽  
Surgical Management ◽  
Clinical Presentation ◽  
Clinical Signs ◽  
Thoracic Inlet ◽  
Cervical Oesophagus ◽  
Foreign Objects ◽  
History Of ◽  
Oesophageal Obstruction ◽  
Large Animals

Oesophageal disorders are relatively uncommon in large animals. Oesophageal obstruction is the most frequently encountered clinical presentation in bovine and it may be intraluminal or extra luminal (Haven, 1990). Intraluminal obstruction or “choke” is the most common abnormality that usually occurs when foreign objects, large feedstuff, medicated boluses, trichobezoars, or oesophageal granuloma lodge in the lumen of the oesophagus. Oesophageal obstructions in bovine commonly occur at the pharynx, the cranial aspect of the cervical oesophagus, the thoracic inlet, or the base of the heart (Choudhary et al., 2010). Diagnosis of such problem depends on the history of eating particular foodstuff and clinical signs as bloat, tenesmus, retching, and salivation

Mind Cure

2019 ◽  
Author(s):  
Wakoh Shannon Hickey
Keyword(s):  
White Male ◽  
Late Nineteenth Century ◽  
Scientific Psychology ◽  
Race And Gender ◽  
History Of ◽  
And Performance ◽  
And Gender ◽  
First Americans ◽  
The Mind ◽  
Political Economic

Mindfulness is widely claimed to improve health and performance, and historians typically say that efforts to promote meditation and yoga therapeutically began in the 1970s. In fact, they began much earlier, and that early history offers important lessons for the present and future. This book traces the history of mind-body medicine from eighteenth-century Mesmerism to the current Mindfulness boom and reveals how religion, race, and gender have shaped events. Many of the first Americans to advocate meditation for healing were women leaders of the Mind Cure movement, which emerged in the late nineteenth century. They believed that by transforming their consciousness, they could also transform oppressive circumstances in which they lived, and some were activists for social reform. Trained by Buddhist and Hindu missionaries, these women promoted meditation through personal networks, religious communities, and publications. Some influenced important African American religious movements, as well. For women and black men, Mind Cure meant not just happiness but liberation in concrete political, economic, and legal terms. The Mind Cure movement exerted enormous pressure on mainstream American religion and medicine, and in response, white, male doctors and clergy with elite academic credentials appropriated some of its methods and channeled them into scientific psychology and medicine. As mental therapeutics became medicalized, individualized, and then commodified, the religious roots of meditation, like the social justice agendas of early Mind Curers, fell away. After tracing how we got from Mind Cure to Mindfulness, this book reveals what got lost in the process.

scholarly journals L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 682
Author(s):  
Matthias Christen ◽  
Nils Janzen ◽  
Anne Fraser ◽  
Adrian C. Sewell ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Missense Variant ◽  
Microcytic Anemia ◽  
Abnormal Behavior ◽  
Functional Candidate Gene ◽  
History Of ◽  
The Brain ◽  
Hydroxyglutaric Acid

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizure-like episodes, characterized by running around the house, often in circles, with abnormal behavior, bumping into obstacles, salivating and often urinating. The episodes were followed by a period of disorientation and inappetence. Neurological examination revealed an absent bilateral menace response. Routine blood work revealed mild microcytic anemia but biochemistry, ammonia, lactate and pre- and post-prandial bile acids were unremarkable. MRI of the brain identified multifocal, bilaterally symmetrical and T2-weighted hyperintensities within the prosencephalon, mesencephalon and metencephalon, primarily affecting the grey matter. Urinary organic acids identified highly increased levels of L-2-hydroxyglutaric acid. The cat was treated with the anticonvulsants levetiracetam and phenobarbitone and has been seizure-free for 16 months. We sequenced the genome of the affected cat and compared the data to 48 control genomes. L2HGDH, coding for L-2-hydroxyglutarate dehydrogenase, was investigated as the top functional candidate gene. This search revealed a single private protein-changing variant in the affected cat. The identified homozygous variant, XM_023255678.1:c.1301A>G, is predicted to result in an amino acid change in the L2HGDH protein, XP_023111446.1:p.His434Arg. The available clinical and biochemical data together with current knowledge about L2HGDH variants and their functional impact in humans and dogs allow us to classify the p.His434Arg variant as a causative variant for the observed neurological signs in this cat.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

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