*  Pseudohypoparathyroidism - Wikipedia
Some sources also refer to a "type 1c". The term pseudopseudohypoparathyroidism is used to describe a condition where the ... and if the calcium deficit is severe, generalized seizures. IQ is typically mildly depressed or unaffected. Additional ... individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal. Patients may present ... Suppressed calcitriol levels Hypoparathyroidism Pseudopseudohypoparathyroidism Hyperparathyroidism Rickets Hypervitaminosis D ...
  https://en.wikipedia.org/wiki/Pseudohypoparathyroidism
*  Disorders of calcium metabolism - Wikipedia
Finally, pseudo-pseudohypoparathyroidism is paternally inherited. Patients display normal parathyroid hormone action in the ... Like hypocalcemia, hypercalcemia can be non-severe and present with no symptoms, or it may be severe, with life-threatening ... A normal ionized calcium is 1.12-1.45 mmol/L (4.54-5.61 mg/dL). A normal total calcium is 2.2-2.6 mmol/L (9-10.5 mg/dl). Total ... Hypocalcemia is common and can occur unnoticed with no symptoms or, in severe cases, can have dramatic symptoms and be life- ...
  https://en.wikipedia.org/wiki/Disorders_of_calcium_metabolism
*  Hypoparathyroidism - Wikipedia
These are seizures, severe irregularities in the normal heart beat, as well as spasm of the upper part of the airways or the ... and pseudopseudohypoparathyroidism. Vitamin D deficiency or hereditary insensitivity to this vitamin (X-linked dominant). ... Under normal circumstances, the parathyroids secrete PTH to maintain a calcium level within normal limits, as calcium is ... The main symptoms of hypoparathyroidism are the result of the low blood calcium level, which interferes with normal muscle ...
  https://en.wikipedia.org/wiki/Hypoparathyroidism
*  Parathyroid hormone - Wikipedia
Normal total plasma calcium level ranges from 8.5 to 10.2 mg/dL (2.12 mmol/L to 2.55 mmol/L). Model organisms have been used in ... Severe hypomagnesemia inhibits PTH secretion and also causes resistance to PTH, leading to a form of hypoparathyroidism that is ... Of note, PTH is unchanged in pseudopseudohypoparathyroidism. In osteoporotic women, administration of an exogenous parathyroid ... Bone resorption is the normal destruction of bone by osteoclasts, which are indirectly stimulated by PTH. Stimulation is ...
  https://en.wikipedia.org/wiki/Parathyroid_hormone
*  Hypoparathyroidism | Causes and Symptoms | Patient
Severe symptoms may come on rapidly and need urgent treatment. This may be with calcium given directly into the vein via a drip ... Disturbance of the normal electrical activity of the heart. This can lead to irregularities in the heart rhythm which can in ... Pseudopseudohypoparathyroidism. This occurs when someone has the features of pseudohypoparathyroidism, as described above, but ... If you have severe symptoms, you may need calcium given directly into your vein via a drip (intravenously). ...
  https://patient.info/health/thyroid-and-parathyroid-glands/hypoparathyroidism
*  rav endocrinology . hypoCalcemia Flashcards - Cram.com
normal ionized Ca due to low albumin level. ca will be normal when corrected for low albumin 9 add 0.8 mg to serum ca for each ... Pseudo-pseudohypoparathyroidism refers to the condition in which patients have the phenotypic appearance of ... Hungry bone syndrome with severe hypocalcemia and hypophosphatemia can occur after removal of a parathyroid adenoma in patients ... Laboratory findings of a normal total serum calcium level but a low ionized calcium level (increased calcium binding to albumin ...
  http://www.cram.com/flashcards/rav-endocrinology-hypocalcemia-1823442
*  Novità scientifiche - Ipoha Onlus
... paternal inheritance is concerned because it can lead to either a mild expression of pseudopseudohypoparathyroidism or a severe ... RT-PCR analysis demonstrated expression of both normal and mutant GNAS1 transcripts in the patient. Thus, the patient is ... It is, however, more severe in patients in whom origin of the mutation is paternal. Severe intrauterine growth retardation was ... mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism ...
  http://www.ipohaonlus.org/cose-la-poh/novita-scientifiche/
*  Genetic and Systemic Disorders - Radiology Notes
Normal IQ.. Fibromatosis Colli. Nonneoplastic focal or diffuse enlargement of SCM in an infant ?from birth injury, associated ... Severe mental retardation by 6/12, seizures, reduced pigmentation.. Galactosemia. AR, inability to convert galactose (fom ... Short 4th MCs (DDx pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism). *Depressed medial tibial platueau, tarsal ... Normal chromosome number.. Connective Tissue Diseases. Inherited connective tissue diseases include Marfan syndrome, Ehlers- ...
  http://radnotes.co.nz/other/genetic_and_systemic_disorders/
*  Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency : Journal...
Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete ... However, as isolated GH deficiency could not explain all other concomitant features, such as severe lactic acidosis, ... Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. *How much truth is there ... Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete ...
  https://www.degruyter.com/view/j/jpem.2013.26.issue-7-8/jpem-2012-0119/jpem-2012-0119.xml
*  Short stature - Wikipedia
From a medical perspective, severe shortness can be a variation of normal, resulting from the interplay of multiple familial ... 2001). "Growth and Development in the Normal Infant and Child, Table 7.1". Principles and Practice of Endocrinology and ... Short stature can also be caused by the bone plates fusing at an earlier age than normal, therefore stunting growth. Normally, ...
  https://en.wikipedia.org/wiki/Short_stature
*  Primordial dwarfism - Wikipedia
It is known that PD is caused by inheriting a mutant gene from each parent.[5] The lack of normal growth in the disorder is not ... The correct diagnosis of PD may not be made until the child is 5 years old and it becomes apparent that the child has severe ... The five subtypes of primordial dwarfism are among the most severe forms of the 200 types of dwarfism, and some sources ...
  https://en.wikipedia.org/wiki/Primordial_dwarfism
*  Hypocalcaemia - Wikipedia
Normal blood calcium level is between 8.5 to 10.5 mg/dL (2.12 to 2.62 mmol/L) and that of ionized calcium is 4.65 to 5.25 mg/dL ... Initial treatment for severe disease is with intravenous calcium chloride and possibly magnesium sulfate.[1] Other treatments ... Hypocalcaemia, also spelled hypocalcemia, is low calcium levels in the blood serum.[5] The normal range is 2.1-2.6 mmol/L (8.8- ... But if the hypocalcemia has been severe and chronic, then this regimen can be fatal, because there is a degree of ...
  https://en.wikipedia.org/wiki/Hypocalcemia
*  Diabetes insipidus - Wikipedia
The body's normal response to dehydration is to conserve water by concentrating the urine. Those with DI continue to urinate ... Habit drinking (in its severest form termed psychogenic polydipsia) is the most common imitator of diabetes insipidus at all ...
  https://en.wikipedia.org/wiki/Diabetes_insipidus
*  Roentgen Ray Reader: March 2012
Normal ossification center: The normal ossification center of the tuberosity of the fifth metatarsal is oriented parallel to ... Patients typically present with severe, rapid-onset joint pain, tenderness, swelling, and overlying erythema. The symptoms peak ... associated with Albright hereditary osteodystrophy can either have pseudohypoparathyroidism or pseudopseudohypoparathyroidism. ... Normal variant (e.g., in children) *Subchondral fractures: These are linear or curvilinear fractures that extend through the ...
  http://roentgenrayreader.blogspot.com/2012_03_01_archive.html
*  Osteoma Cutis Publications and Abstracts | PubFacts.com
Osteoma cutis (OC) is a rare benign disorder where osseous nodules form in the reticular layer of normal skin. These nodules ... Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal ... Paternally inherited mutations can lead either to pseudopseudohypoparathyroidism (PPHP) characterized by AHO alone, or to ... We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this ...
  https://www.pubfacts.com/search/Osteoma+Cutis
*  Graves' disease - Wikipedia
Normal thyroid levels are also seen, and occasionally also hypothyroidism, which may assist in causing goiter (though it is not ... Severe cases threatening vision (corneal exposure or optic nerve compression) are treated with steroids or orbital ... The president's wife, Barbara Bush, also developed the disease around the same time, which, in her case, produced severe ... Thyrotrophin binding-inhibiting immunoglobulins: these antibodies inhibit the normal union of TSH with its receptor. Some ...
  https://en.wikipedia.org/wiki/Graves-Basedow_disease
*  Li-Fraumeni syndrome - Wikipedia
With pH in the low to normal physiological range (up to 7.5), the mutant protein forms normal oligomers and retains its ... cAMP/GNAS1: Pseudopseudohypoparathyroidism. *Progressive osseous heteroplasia. *Pseudohypoparathyroidism. *Albright's ... Normal Conditions:[citation needed] TP53 is a tumor suppressor gene on chromosome 17 that normally assists in the control of ... Mutant Conditions: Mutations of TP53 can inhibit its normal function, and allow cells with damaged DNA to continue to divide. ...
  https://en.wikipedia.org/wiki/Li-Fraumeni_syndrome
*  Diabetes mellitus type 2 - Wikipedia
Maintaining normal weight, exercising, eating properly[1]. Treatment. Dietary changes, metformin, insulin, bariatric surgery[1] ... Metformin should not be used in those with severe kidney or liver problems.[23] ... Weight loss surgery in those who are obese is an effective measure to treat diabetes.[97] Many are able to maintain normal ... Type 2 diabetes is partly preventable by staying a normal weight, exercising regularly, and eating properly.[1] Treatment ...
  https://en.wikipedia.org/wiki/Type_2_diabetes
*  Diabetes mellitus - Wikipedia
Severe cases can lead to unconsciousness and must be treated with intravenous glucose or injections with glucagon.[25] ... Prediabetes indicates a condition that occurs when a person's blood glucose levels are higher than normal but not high enough ... In severe cases, perinatal death may occur, most commonly as a result of poor placental perfusion due to vascular impairment. ... A rare but equally severe possibility is hyperosmolar hyperglycemic state, which is more common in type 2 DM and is mainly the ...
  https://en.wikipedia.org/wiki/Diabetic
*  The Diabetic Pharmacist Blog » diabetes type 2
Weight loss surgery in those who are obese is an effective measure to treat diabetes.[51] Many are able to maintain normal ... Metformin should not be used in those with severe kidney or liver problems.[5] Injections of insulin may either be added to ... and maintaining blood glucose levels in the normal range.[7] Self-monitoring of blood glucose for people with newly diagnosed ... which is the inability of cells to respond adequately to normal levels of insulin, occurs primarily within the muscles, liver, ...
  http://thediabeticpharmacist.com/diabetes-type-2/comment-page-1/
*  Diabetic Retinopathy @ Retina Orange County
The first time this bleeding occurs, it may not be very severe. In most cases, it will leave just a few specks of blood, or ... In the UK, screening for diabetic retinopathy is part of the standard of care for people with diabetes.[21] After one normal ... This has been shown to reduce the risk of severe vision loss for eyes at risk by 50%.[2] ... As the disease progresses, severe nonproliferative diabetic retinopathy enters an advanced or proliferative (PDR) stage, where ...
  https://www.retinaoc.com/diseases/vascular/dr