Science.gov

Sample records for adrenal insufficiency achalasia

  1. Adrenal Insufficiency

    MedlinePlus

    ... What is adrenal insufficiency? Did you know? The adrenal glands, located on top of the kidneys, make hormones ... body functions. The outer layer (cortex) of the adrenal glands makes three types of steroid hormones. In adrenal ...

  2. Adrenal insufficiency.

    PubMed

    Li-Ng, Melissa; Kennedy, Laurence

    2012-10-01

    Adrenocortical insufficiency may arise through primary failure of the adrenal glands or due to lack of ACTH stimulation as a result of pituitary or hypothalamic dysfunction. Prolonged administration of exogenous steroids will suppress the hypothalamic-pituitary-adrenal axis, and hence cortisol secretion. We review briefly the causes, investigation, and treatment of adrenal insufficiency, and highlight aspects of particular relevance to patients with adrenal tumors.

  3. Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy.

    PubMed

    Aftab, Sommayya; Manzoor, Jaida; Talat, Nabila; Khan, Hafiz Sajid; Subhanie, Maroof; Khalid, Nauman Abbas

    2016-09-01

    Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. If it is associated with autonomic dysfunction, it is termed as 4-Asyndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A5-year boy presented with history of fits and altered sensorium for one day. He also had increased pigmentation of body and persistent vomiting since six months of age. Laboratory investigations and imaging revealed alacrimia, achalasia and adrenal insufficiency due to ACTH resistance. He had episodes of hypertensive crises, for which he was thoroughly investigated and it was found to be due to autonomic instability. Based on clinical findings and investigations he was diagnosed as case of Allgrove syndrome or 4-Asyndrome with autonomic dysfunction. PMID:27671188

  4. [Adrenal mass and adrenal insufficiency].

    PubMed

    Martínez Albaladejo, M; García López, B; Serrano Corredor, S; Alguacil García, G

    1996-12-01

    Primary adrenal insufficiency is a non frequent disease, that is declared in young adults and in the most of the cases is produced from an autoimmune mechanism or a tuberculous disease. The incidence of these forms in the different geographic areas is dependent of degree of irradication of the tuberculosis. We report the case of a patient with latent chronic adrenal insufficiency of tuberculous origin who was affected for an addisonian crisis during an intercurrent infectious disease, which permitted the diagnosis of the addisonian crisis, and Mal of Pott was moreover detected. Evolution with corticosteroid and specific treatment was very favorable.

  5. Adrenal insufficiency: diagnosis and management.

    PubMed

    Munver, Ravi; Volfson, Ilya A

    2006-01-01

    Adrenal insufficiency is a disorder characterized by hypoactive adrenal glands resulting in insufficient production of the hormones cortisol and aldosterone by the adrenal cortex. This disorder may develop as a primary failure of the adrenal cortex or be secondary to an abnormality of the hypothalamic-pituitary axis. Patients with adrenal insufficiency often are asymptomatic or they may present with fatigue, muscle weakness, weight loss, low blood pressure, and sometimes darkening of the skin. The presentation of adrenal insufficiency varies dramatically and poses a major diagnostic dilemma. This review focuses on the diagnosis and treatment of primary and secondary adrenal insufficiency.

  6. [Adrenal insufficiency in cirrhotic patients].

    PubMed

    Orozco, Federico; Anders, María; Mella, José; Antinucci, Florencia; Pagano, Patricia; Esteban, Paula; Cartier, Mariano; Romero, Gustavo; Francini, Bettina; Mastai, Ricardo

    2016-01-01

    Relative adrenal insufficiency (RAI) is a common finding in cirrhotic patients with severe sepsis, and increased mortality. Its significance is unknown in stable conditions. The aim of this study was to evaluate the prevalence of RAI in stable cirrhotic patients at different stages of the disease. Also, the impact of RAI on the survival was evaluated and basal cortisol levels between plasma and saliva was correlated in control subjects and cirrhotic patients. Forty seven ambulatory patients and 16 control subjects were studied. RAI was defined as a serum cortisol increase of less than 9 υg/dl from baseline after the stimulation with 250 mg of synthetic ACTH. Twenty two had Child-Pugh = 8 and 25 = 9. The prevalence of RAI in patients with stable cirrhosis was 22%. A higher incidence of RAI was observed in patients with a Child-Pugh = 9 (8/32) than in those with = 8 (3/13, p < 0.05). A correlation between salivary cortisol and basal plasma cortisol (r = 0.6, p < 0.0004) was observed. Finally, survival at 1 year (97%) and 3 years (91%) was significantly higher without RAI than those who developed this complication (79% and 51%, p < 0.05, respectively). In summary, the prevalence of RAI is frequent in patients with stable cirrhosis and that it is related to the severity of liver diseaseand increased mortality. PMID:27576278

  7. Diagnosis and management of adrenal insufficiency.

    PubMed

    Bancos, Irina; Hahner, Stefanie; Tomlinson, Jeremy; Arlt, Wiebke

    2015-03-01

    Adrenal insufficiency continues to be a challenge for patients, their physicians, and researchers. During the past decade, long-term studies have shown increased mortality and morbidity and impaired quality of life in patients with adrenal insufficiency. These findings might, at least partially, be due to the failure of glucocorticoid replacement therapy to closely resemble physiological diurnal secretion of cortisol. The potential effect of newly developed glucocorticoid drugs is a focus of research, as are the mechanisms potentially underlying increased morbidity and mortality. Adrenal crisis remains a threat to lives, and awareness and preventative measures now receive increasing attention. Awareness should be raised in medical teams and patients about adrenal insufficiency and management of adrenal crisis to improve clinical outcome.

  8. Hyperkalemic paralysis in primary adrenal insufficiency

    PubMed Central

    Mishra, Ajay; Pandya, Himanshu V.; Dave, Nikhil; Sapre, Chinmaye M.; Chaudhary, Sneha

    2014-01-01

    Hyperkalemic paralysis due to Addison's disease is rare, and potentially life-threatening entity presenting with flaccid motor weakness. This case under discussion highlights Hyperkalemic paralysis as initial symptomatic manifestation of primary adrenal insufficiency. PMID:25136192

  9. Chronic Heroin Dependence Leading to Adrenal Insufficiency

    PubMed Central

    2014-01-01

    Opioids have been the mainstay for pain relief and palliation over a long period of time. They are commonly abused by drug addicts and such dependence usually imparts severe physiologic effects on multiple organ systems. The negative impact of opioids on the endocrine system is poorly understood and often underestimated. We describe a patient who developed severe suppression of the hypothalamic-pituitary adrenal (HPA) axis leading to secondary adrenal insufficiency due to long standing abuse of opioids. PMID:25221675

  10. Achalasia

    MedlinePlus

    ... from the mouth to the stomach is the esophagus. Achalasia makes it harder for the esophagus to move food into the stomach. ... a muscular ring at the point where the esophagus and stomach meet. It is called the lower ...

  11. Adrenomyeloneuropathy Presenting With Adrenal Insufficiency

    PubMed Central

    Park, Hee Dong; Choi, Yong Min; Kang, Jin Ho

    2013-01-01

    Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic paraparesis and urinary and erectile dysfunction. We experienced the AMN case of a 33-year-old man presenting bilateral progressive spastic paraparesis, impotence and urge incontinence with primary adrenal failures, as confirmed by increased serum of VLCFA concentrations. Considering that somatosensory evoked potentials in posterior tibial nerve was the only abnormal finding in electrophysiologic findings when compared with the severe spastic gait pattern shown, it is necessary to follow up with electrophysiologic studies. PMID:24020038

  12. [Acute adrenal insufficiency in the newborn].

    PubMed

    Limal, J-M; Bouhours-Nouet, N; Rouleau, S; Gatelais, F; Coutant, R

    2006-10-01

    Neonatal acute adrenal insufficiency is a rare condition. Congenital adrenal hyperplasia with 21-hydroxylase defect appears to be the most frequent cause, but the neonatal screening has improved its potential severe outcome. The other causes and the various clinical presentations have been exposed, with a special reference to the salt-wasting syndrome. Among them, the severity of X-linked adrenal hypoplasia congenita (AHC) deserves special attention. Two other causes of adrenal hypoplasia have been recently discovered, i.e. a mutation of the SF-1 gene and the syndrome IMAGe. Adrenal insufficiency secondary to ACTH deficiency is often unrecognised despite the risk of severe seizures and hypoglycaemia with brain damage. Finally, the hormonal diagnostic testing and the main therapeutic approach by corticosteroids have been indicated. The aim of this work is to focus the attention of paediatricians who examine a newborn because the risk of delayed diagnosis and fatal outcome may be limited if the clinical symptoms are soon recognized. PMID:16962294

  13. Adrenal insufficiency and adrenal replacement therapy. Current status in Spain.

    PubMed

    Aulinas, Anna; Casanueva, Felipe; Goñi, Fernando; Monereo, Susana; Moreno, Basilio; Picó, Antonio; Puig-Domingo, Manel; Salvador, Javier; Tinahones, Francisco J; Webb, Susan M

    2013-03-01

    Adrenal insufficiency (AI) is a rare endocrine disease, associated to increased mortality if left untreated. It can be due to a primary failure of the adrenal glands (primary AI) or malfunctioning of the hypothalamic-pituitary-adrenal axis (HPA) (secondary AI). The lack of data on incidence/prevalence of adrenal insufficiency in Spain complicates any evaluation of the magnitude of the problem in our country. Initial symptoms are non-specific, so often there is a delay in diagnosis. Current therapy with available glucocorticoids is associated with decreased quality of life in patients with treated AI, as well as with increased mortality and morbidity, probably related to both over-treatment and lack of hydrocortisone, associated with non-physiological peaks and troughs of the drug over the 24 hours. The availability of a new drug with a modified dual release (immediate and retarded), that requires one only daily dose, improves and simplifies the treatment, increases compliance as well as quality of life, morbidity and possibly mortality. This revision deals with the knowledge on the situation both globally and in Spain, prior to the availability of this new drug.

  14. Adrenal insufficiency in patients with decompensated cirrhosis

    PubMed Central

    Karagiannis, Apostolos KA; Nakouti, Theodora; Pipili, Chrysoula; Cholongitas, Evangelos

    2015-01-01

    Adrenal reserve depletion and overstimulation of the hypothalamus-pituitary-adrenal (HPA) axis are causes for adrenal insufficiency (AI) in critically ill individuals. Cirrhosis is a predisposing condition for AI in cirrhotics as well. Both stable cirrhotics and liver transplant patients (early and later after transplantation) have been reported to present AI. The mechanisms leading to reduced cortisol production in cirrhotics are the combination of low cholesterol levels (the primary source of cortisol), the increased cytokines production that overstimulate and exhaust HPA axis and the destruction of adrenal glands due to coagulopathy. AI has been recorded in 10%-82% cirrhotics depending on the test used to evaluate adrenal function and in 9%-83% stable cirrhotics. The similarity of those proportions support the assumption that AI is an endogenous characteristic of liver disease. However, the lack of a gold standard method for AI assessment and the limitation of precise thresholds in cirrhotics make difficult the recording of the real prevalence of AI. This review aims to summarize the present data over AI in stable, critically ill cirrhotics and liver transplant recipients. Moreover, it provides information about the current knowledge in the used diagnostic tools and the possible effectiveness of corticosteroids administration in critically ill cirrhotics with AI. PMID:26052400

  15. Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome

    PubMed Central

    Brown, Brande; Agdere, Levon; Muntean, Cornelia; David, Karen

    2016-01-01

    Patient: Female, 6 Final Diagnosis: Allgrove syndrome Symptoms: Achalasiaadrenal insufficiency • alacrima Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Rare disease Background: Allgrove syndrome, or triple “A” syndrome (3A syndrome), is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent. Case Report: Here, the authors report a case of Allgrove syndrome in a pediatric patient with delayed diagnosis in order to raise awareness of this potentially fatal disease as a differential diagnosis of alacrima. Conclusions: The prevalence of Allgrove syndrome may be much higher as a result of underdiagnosis and missed diagnosis due to the variable presentation and sudden unexplained childhood death from adrenal crisis. The authors review the characteristic symptoms of Allgrove syndrome in relation to the case study in order to avoid missed or delayed diagnosis, potentially decreasing morbidity, and mortality in those affected by this disease. PMID:27698338

  16. Adrenal insufficiency presenting as hypercalcemia and acute kidney injury

    PubMed Central

    Ahn, Seung Won; Kim, Tong Yoon; Lee, Sangmin; Jeong, Jeong Yeon; Shim, Hojoon; Han, Yu min; Choi, Kyu Eun; Shin, Seok Joon; Yoon, Hye Eun

    2016-01-01

    Adrenal insufficiency is an uncommon cause of hypercalcemia and not easily considered as an etiology of adrenal insufficiency in clinical practice, as not all cases of adrenal insufficiency manifest as hypercalcemia. We report a case of secondary adrenal insufficiency presenting as hypercalcemia and acute kidney injury in a 66-year-old female. The patient was admitted to the emergency department with general weakness and poor oral intake. Hypercalcemia (11.5 mg/dL) and moderate renal dysfunction (serum creatinine 4.9 mg/dL) were shown in her initial laboratory findings. Studies for malignancy and hyperparathyroidism showed negative results. Basal cortisol and adrenocorticotropic hormone levels and adrenocorticotropic hormone stimulation test confirmed the diagnosis of adrenal insufficiency. With the administration of oral hydrocortisone, hypercalcemia was dramatically resolved within 3 days. This case shows that adrenal insufficiency may manifest as hypercalcemia and acute kidney injury, which implicates that adrenal insufficiency should be considered a cause of hypercalcemia in clinical practice. PMID:27536162

  17. Prolonged adrenal insufficiency after unilateral adrenalectomy for Cushing's Syndrome.

    PubMed

    Kulshreshtha, Bindu; Arora, Arpita; Aggarwal, Anshita; Bhardwaj, Minakshi

    2015-01-01

    The contralateral healthy adrenal in patients undergoing unilateral adrenalectomy for Cushing's is known to be suppressed temporarily and forms the basis of peri and postoperative steroids. We present four cases of Cushing's who had prolonged adrenal insufficiency with continued requirement for steroids for periods ranging 1-4 years after unilateral adrenalectomy for Cushing's. We further review literature regarding the recovery of the hypothalamo pituitary adrenal axis postsurgery in patients with Cushing's syndrome.

  18. A case of human intramuscular adrenal gland transplantation as a cure for chronic adrenal insufficiency.

    PubMed

    Grodstein, E; Hardy, M A; Goldstein, M J

    2010-02-01

    Intramuscular endocrine gland transplantation has been well described as it pertains to parathyroid autotransplantation; however, transplantation of the adrenal gland is less well characterized. While adrenal autotransplantation in the setting of Cushing's disease has been described, intramuscular adrenal allotransplantation as a cure for adrenal insufficiency to our knowledge has not been previously carried out. Current treatment for adrenal insufficiency leaves patients without diurnal variation in cortisol release and susceptible to the detrimental effects of chronic hypercortisolism. We describe here the case of a 5-year-old girl with renal failure who had adrenal insufficiency following fulminant meningococcemia that led to requirements for both stress-dose steroid and mineralocorticoid replacement. Ten months after the onset of her disease, she received a simultaneous renal and adrenal gland transplant from her mother. The adrenal gland allograft was morselized into 1 mm(3) segments and implanted into three 2 cm pockets created in her rectus abdominis muscle. Three years after surgery, her allograft remains fully functional, responding well to adrenocorticotropin hormone stimulation and the patient does not require any steroid or mineral-corticoid supplementation. We believe this case represents the first description of successful functional intramuscular adrenal allograft transplantation with long-term follow up as a cure for adrenal insufficiency.

  19. Severe Psychotic Disorder as the Main Manifestation of Adrenal Insufficiency

    PubMed Central

    Farah, Julia de Lima; Lauand, Carolina Villar; Chequi, Lucas; Fortunato, Enrico; Pasqualino, Felipe; Bignotto, Luis Henrique; Batista, Rafael Loch; Aprahamian, Ivan

    2015-01-01

    We describe a case of severe psychotic disorder as the only manifestation of primary adrenal insufficiency. A 63-year-old man presented with psychotic symptoms without any prior psychiatric history. During the clinical and laboratorial investigation, exams revealed a normovolemic hyponatremia. The patient showed no other clinical signs or symptoms compatible with adrenal insufficiency but displayed very high ACTH and low serum cortisol concentrations. Brain magnetic resonance imaging showed no significant changes, including the pituitary gland. The patient was initially treated with intravenous corticosteroids, resulting in rapid remission of the psychotic symptoms. The association between adrenal insufficiency and neuropsychiatric symptoms is rare but these symptoms can often be the first clinical presentation of the disease. PMID:25954562

  20. New Directions for the Treatment of Adrenal Insufficiency

    PubMed Central

    Ruiz-Babot, Gerard; Hadjidemetriou, Irene; King, Peter James; Guasti, Leonardo

    2015-01-01

    Adrenal disease, whether primary, caused by defects in the hypothalamic–pituitary–adrenal (HPA) axis, or secondary, caused by defects outside the HPA axis, usually results in adrenal insufficiency, which requires lifelong daily replacement of corticosteroids. However, this kind of therapy is far from ideal as physiological demand for steroids varies considerably throughout the day and increases during periods of stress. The development of alternative curative strategies is therefore needed. In this review, we describe the latest technologies aimed at either isolating or generating de novo cells that could be used for novel, regenerative medicine application in the adrenocortical field. PMID:25999916

  1. Delayed Diagnosis of Graves' Thyrotoxicoisis Presenting as Recurrent Adrenal Crisis in Primary Adrenal Insufficiency.

    PubMed

    Naik, Dukhabandhu; Jebasingh, K Felix; Thomas, Nihal

    2016-04-01

    Adrenal crisis is a potential life threatening complication. The common causes of adrenal crisis are infections, surgical stress and abrupt cessation of steroid medications. Endocrine causes like Graves' disease with thyrotoxicosis is one of the less common causes of an adrenal crisis. We report a 42-year-old female who presented with recurrent episodes of adrenal crisis due to delayed diagnosis of thyrotoxicosis. She was initially treated with Carbimazole followed by Radio-iodine ablation and currently she is euthyroid. Her adrenal insufficiency was initially treated with hydrocortisone during the time of adrenal crisis followed by Prednisolone 5 mg once daily in the morning along with fludrocortisone 50 mcg once daily. This case highlights the need for high index of suspicion and less common causes like thyrotoxicosis should be ruled out in patients with adrenal crisis.

  2. Paraneoplastic (non-metastatic) adrenal insufficiency preceded the onset of primary lung cancer by 12 weeks.

    PubMed

    Shantha, Ghanshyam Palamaner Subash; Kumar, Anita A; Jeyachandran, Vijay; Rajamanickam, Deepan; Bhaskar, Emmanuel; Paniker, Vinod K; Abraham, Georgi

    2009-01-01

    Clinically evident adrenal insufficiency associated with lung cancer is a rare entity. Among reported cases, adrenal insufficiency has occurred with or succeeded the primary lung cancer. Adrenal insufficiency has also been secondary to metastasis to the adrenal gland. The present report concerns a 61-year-old man, a chronic smoker, who presented to us with symptomatic adrenal insufficiency. He had no evidence of lung cancer during this visit. The primary lung cancer was only identified 12 weeks later. Additionally, his adrenals showed no evidence of metastasis. Hence his adrenal insufficiency had been a paraneoplastic manifestation of the lung cancer, and it had also preceded the primary by 12 weeks.

  3. Paraneoplastic (non-metastatic) adrenal insufficiency preceded the onset of primary lung cancer by 12 weeks

    PubMed Central

    Shantha, Ghanshyam Palamaner Subash; Kumar, Anita A; Jeyachandran, Vijay; Rajamanickam, Deepan; Bhaskar, Emmanuel; Paniker, Vinod K; Abraham, Georgi

    2009-01-01

    Clinically evident adrenal insufficiency associated with lung cancer is a rare entity. Among reported cases, adrenal insufficiency has occurred with or succeeded the primary lung cancer. Adrenal insufficiency has also been secondary to metastasis to the adrenal gland. The present report concerns a 61-year-old man, a chronic smoker, who presented to us with symptomatic adrenal insufficiency. He had no evidence of lung cancer during this visit. The primary lung cancer was only identified 12 weeks later. Additionally, his adrenals showed no evidence of metastasis. Hence his adrenal insufficiency had been a paraneoplastic manifestation of the lung cancer, and it had also preceded the primary by 12 weeks. PMID:21686682

  4. Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism

    PubMed Central

    Loureiro, Marta; Reis, Filipa; Robalo, Brígida; Pereira, Carla; Sampaio, Lurdes

    2015-01-01

    Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism. PMID:26500747

  5. Mifepristone Accelerates HPA Axis Recovery in Secondary Adrenal Insufficiency.

    PubMed

    Cohan, Pejman

    2016-01-01

    Context. Transient secondary adrenal insufficiency (SAI) is an expected complication following successful adenomectomy of ACTH-secreting pituitary adenomas or unilateral adrenalectomy for cortisol-secreting adrenal adenomas. To date, no pharmacological therapy has been shown to hasten recovery of the hypothalamic-pituitary-adrenal (HPA) axis in this clinical scenario. Case Description. A 33-year-old woman underwent uncomplicated unilateral adrenalectomy for a 3.7 cm cortisol-secreting adrenal adenoma. Postoperatively, she developed SAI and was placed on hydrocortisone 15 mg/day, given in divided doses. In the ensuing six years, the patient's HPA axis failed to recover and she remained corticosteroid-dependent. Quarterly biochemical testing (after withholding hydrocortisone for 18 hours) consistently yielded undetectable serum cortisol and subnormal plasma ACTH levels. While she was on hydrocortisone 15 mg/day, mifepristone was initiated and gradually titrated to a maintenance dose of 600 mg/day after 5 months. Rapid recovery of the HPA axis was subsequently noted with ACTH rising into the supranormal range at 4 months followed by a subsequent rise in cortisol levels into the normal range. After 6 months, the dose of hydrocortisone and mifepristone was lowered and both were ultimately stopped after 8 months. The HPA axis remains normal after an additional 16 months of follow-up. Conclusion. Mifepristone successfully restored the HPA axis in a woman with prolonged secondary adrenal insufficiency (SAI) after adrenalectomy for Cushing's syndrome (CS).

  6. Mifepristone Accelerates HPA Axis Recovery in Secondary Adrenal Insufficiency.

    PubMed

    Cohan, Pejman

    2016-01-01

    Context. Transient secondary adrenal insufficiency (SAI) is an expected complication following successful adenomectomy of ACTH-secreting pituitary adenomas or unilateral adrenalectomy for cortisol-secreting adrenal adenomas. To date, no pharmacological therapy has been shown to hasten recovery of the hypothalamic-pituitary-adrenal (HPA) axis in this clinical scenario. Case Description. A 33-year-old woman underwent uncomplicated unilateral adrenalectomy for a 3.7 cm cortisol-secreting adrenal adenoma. Postoperatively, she developed SAI and was placed on hydrocortisone 15 mg/day, given in divided doses. In the ensuing six years, the patient's HPA axis failed to recover and she remained corticosteroid-dependent. Quarterly biochemical testing (after withholding hydrocortisone for 18 hours) consistently yielded undetectable serum cortisol and subnormal plasma ACTH levels. While she was on hydrocortisone 15 mg/day, mifepristone was initiated and gradually titrated to a maintenance dose of 600 mg/day after 5 months. Rapid recovery of the HPA axis was subsequently noted with ACTH rising into the supranormal range at 4 months followed by a subsequent rise in cortisol levels into the normal range. After 6 months, the dose of hydrocortisone and mifepristone was lowered and both were ultimately stopped after 8 months. The HPA axis remains normal after an additional 16 months of follow-up. Conclusion. Mifepristone successfully restored the HPA axis in a woman with prolonged secondary adrenal insufficiency (SAI) after adrenalectomy for Cushing's syndrome (CS). PMID:27516913

  7. Mifepristone Accelerates HPA Axis Recovery in Secondary Adrenal Insufficiency

    PubMed Central

    2016-01-01

    Context. Transient secondary adrenal insufficiency (SAI) is an expected complication following successful adenomectomy of ACTH-secreting pituitary adenomas or unilateral adrenalectomy for cortisol-secreting adrenal adenomas. To date, no pharmacological therapy has been shown to hasten recovery of the hypothalamic-pituitary-adrenal (HPA) axis in this clinical scenario. Case Description. A 33-year-old woman underwent uncomplicated unilateral adrenalectomy for a 3.7 cm cortisol-secreting adrenal adenoma. Postoperatively, she developed SAI and was placed on hydrocortisone 15 mg/day, given in divided doses. In the ensuing six years, the patient's HPA axis failed to recover and she remained corticosteroid-dependent. Quarterly biochemical testing (after withholding hydrocortisone for 18 hours) consistently yielded undetectable serum cortisol and subnormal plasma ACTH levels. While she was on hydrocortisone 15 mg/day, mifepristone was initiated and gradually titrated to a maintenance dose of 600 mg/day after 5 months. Rapid recovery of the HPA axis was subsequently noted with ACTH rising into the supranormal range at 4 months followed by a subsequent rise in cortisol levels into the normal range. After 6 months, the dose of hydrocortisone and mifepristone was lowered and both were ultimately stopped after 8 months. The HPA axis remains normal after an additional 16 months of follow-up. Conclusion. Mifepristone successfully restored the HPA axis in a woman with prolonged secondary adrenal insufficiency (SAI) after adrenalectomy for Cushing's syndrome (CS). PMID:27516913

  8. “Petrified Ears” in Secondary Adrenal Insufficiency

    PubMed Central

    Goswami, Soumik; Chakraborty, Partha Pratim; Ghosh, Sujoy; Chowdhury, Subhankar

    2016-01-01

    Petrification of the auricle, a rarely encountered clinical entity usually results from ectopic calcification of the auricular cartilages and manifests as rigid ear. The underlying pathogenesis remains ambiguous with several proposed hypotheses till date. Auricular calcification may be the sole cutaneous marker of underlying endocrinopathy at times. Adrenal insufficiency is the most common endocrinological disorder to be associated with such stiff ears and it has been described in both primary as well as secondary forms of the disease. We present here a 30-year-old man whose clinical condition deteriorated following levothyroxine supplementation and the presence of “petrified ears” ultimately provided a clue to the diagnosis of associated secondary adrenal insufficiency. PMID:27042511

  9. Adrenal insufficiency in a child with MELAS syndrome.

    PubMed

    Afroze, Bushra; Amjad, Nida; Ibrahim, Shahnaz H; Humayun, Khadija Nuzhat; Yakob, Yusnita

    2014-11-01

    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype.

  10. Primary symptomatic adrenal insufficiency induced by megestrol acetate.

    PubMed

    Delitala, A P; Fanciulli, G; Maioli, M; Piga, G; Delitala, G

    2013-01-01

    Megestrol acetate (MA) is a progestational agent for the treatment of metastatic breast cancer and endometrial cancer. MA has also been used to promote weight gain in malnourished elderly patients, in patients with immunodeficiency virus and in cancer-induced cachexia. In addition to thromboembolic disease, MA may induce hyperglycaemia, osteoporosis, suppression of the gonadal axis, and Cushing's syndrome. MA has also been shown to cause symptomatic suppression of the hypothalamic-pituitary-adrenal (HPA) axis owing to its intrinsic glucocorticoid-like effect. Three additional patients are presented who developed symptomatic adrenal insufficiency while they were receiving 160-320 mg MA daily. The patients were treated with cortisone acetate supplements, had clear evidence of HPA-axis suppression but recovered fully after MA was discontinued. Patients receiving MA might have an inadequate adrenal response during stressful conditions, possibly because 160-320 mg MA daily may not provide adequate protection to prevent the symptoms of adrenal insufficiency. The adverse MA effect on the HPA axis is probably not well recognised in clinical practice, and clinicians need an increased awareness of the endocrine complications secondary to MA treatment.

  11. [Mantle cell lymphoma markedly infiltrated into adrenal glands with adrenal insufficiency].

    PubMed

    Hashimoto, Ryo; Iwakiri, Rika; Tsutsumi, Hisashi; Ohta, Masatsugu; Mori, Mayumi

    2004-07-01

    A 66-year-old male was admitted to our hospital complaining of bilateral hypochondrial pain, back pain and loss of weight in May, 2002. Superficial lymph nodes were not palpable on admission. The leukocyte count was 3430/microl, hemoglobin concentration, 13.0g/dl, and platelet count, 174000/microl. LDH, soluble IL-2 receptor, ACTH and cortisol values were out of the normal range (LDH 1368IU/l, sIL-2R 2630U/ml, ACTH 132pg/ml, cortisol 7.4microg/dl). Abdominal CT scan showed bilateral adrenal masses, and abnormal uptake of Ga-scintigraphy was seen correspondent with the bilateral adrenal masses. The histological diagnosis of bilateral adrenal masses cannot be performed because of the bleeding tendency, but atypical cells were observed in the patient's bone marrow aspirate. Surface marker analysis of atypical cells showed CD5+, cyclin D1+, CD19+, CD20+ and HLA-DR+. From these results we diagnosed this case as a mantle cell lymphoma (stage IV B) markedly infiltrated into the adrenal glands with adrenal insufficiency. The bilateral adrenal masses dramatically reduced in size after CHOP chemotherapy with hydrocortisone supplementation. We report on the present case and summarize the reports of adrenal grand-infiltrating lymphomas. PMID:15359915

  12. Megace Mystery: A Case of Central Adrenal Insufficiency

    PubMed Central

    Mehta, Kunal; Weiss, Irene; Goldberg, Michael D.

    2015-01-01

    Megestrol acetate (MA) is a synthetic progestin with both antineoplastic and orexigenic properties. In addition to its effects on the progesterone receptor, MA also binds the glucocorticoid receptor. Some patients receiving MA therapy have been reported to develop clinical features of glucocorticoid excess, while others have experienced the clinical syndrome of cortisol deficiency—either following withdrawal of MA therapy or during active treatment. We describe a patient who presented with clinical and biochemical features of central adrenal insufficiency. Pituitary function was otherwise essentially normal, and the etiology of the isolated ACTH suppression was initially unclear. The use of an exogenous glucocorticoid was suspected but was initially denied by the patient; ultimately, the culprit medication was uncovered when a synthetic steroid screen revealed the presence of MA. The patient's symptoms improved after she was switched to hydrocortisone. Clinicians should be aware of the potential effects of MA on the hypothalamic-pituitary-adrenal (HPA) axis. PMID:26770843

  13. A patient with concurrent primary hyperaldosteronism and adrenal insufficiency.

    PubMed

    Puentes, Francisco; Jackson, Thomas W; Isales, Carlos M

    2004-12-01

    A 73-year-old man with history of longstanding primary hyperaldosteronism developed adrenal insufficiency after he ruptured an abdominal aortic aneurysm and had a prolonged hypotensive episode. The patient presented as a diagnostic dilemma with recurrent hypotensive episodes and hypokalemia. A cosyntropin (Cortrosyn) stimulation test demonstrated a blunted cortisol response while at the same time having a suppressed plasma renin activity level and an elevated plasma aldosterone value. Diagnosis of Addison disease and concurrent primary hyperaldosteronism resulted in the patient's being treated with an unusual combination of prednisone and spironolactone followed by marked improvement in his symptoms.

  14. Update on adrenal insufficiency in patients with liver cirrhosis.

    PubMed

    Trifan, Anca; Chiriac, Stefan; Stanciu, Carol

    2013-01-28

    Liver cirrhosis is a major cause of mortality worldwide, often with severe sepsis as the terminal event. Over the last two decades, several studies have reported that in septic patients the adrenal glands respond inappropriately to stimulation, and that the treatment with corticosteroids decreases mortality in such patients. Both cirrhosis and septic shock share many hemodynamic abnormalities such as hyperdynamic circulatory failure, decreased peripheral vascular resistance, increased cardiac output, hypo-responsiveness to vasopressors, increased levels of proinflammatory cytokines [interleukine(IL)-1, IL-6, tumor necrosis factor-alpha] and it has, consequently, been reported that adrenal insufficiency (AI) is common in critically ill cirrhotic patients. AI may also be present in patients with stable cirrhosis without sepsis and in those undergoing liver transplantation. The term hepato-adrenal syndrome defines AI in patients with advanced liver disease with sepsis and/or other complications, and it suggests that it could be a feature of liver disease per se, with a different pathogenesis from that of septic shock. Relative AI is the term given to inadequate cortisol response to stress. More recently, another term is used, namely "critical illness related corticosteroid insufficiency" to define "an inadequate cellular corticosteroid activity for the severity of the patient's illness". The mechanisms of AI in liver cirrhosis are not completely understood, although decreased levels of high-density lipoprotein cholesterol and high levels of proinflammatory cytokines and circulatory endotoxin have been suggested. The prevalence of AI in cirrhotic patients varies widely according to the stage of the liver disease (compensated or decompensated, with or without sepsis), the diagnostic criteria defining AI and the methodology used. The effects of corticosteroid therapy on cirrhotic patients with septic shock and AI are controversial. This review aims to summarize the

  15. Acute adrenal insufficiency: an aide-memoire of the critical importance of its recognition and prevention.

    PubMed

    Gargya, A; Chua, E; Hetherington, J; Sommer, K; Cooper, M

    2016-03-01

    Adrenal crisis is a life-threatening emergency that causes significant excess mortality in patients with adrenal insufficiency. Delayed recognition by medical staff of an impending adrenal crisis and failure to give timely hydrocortisone therapy within the emergency department continue to be commonly encountered, even in metropolitan teaching hospitals. Within the authors' institutions, several cases of poorly handled adrenal crises have occurred over the last 2 years. Anecdotal accounts from members of the Addison's support group suggest that these issues are common in Australia. This manuscript is a timely reminder for clinical staff on the critical importance of the recognition, treatment and prevention of adrenal crisis. The manuscript: (i) outlines a case and the clinical outcome of sub-optimally managed adrenal crisis, (ii) summarises the clinical features and acute management of adrenal crisis, (iii) provides recommendations on the prevention of adrenal crisis and (iv) provides guidance on the management of 'sick days' in patients with adrenal insufficiency.

  16. Cortisol levels in central adrenal insufficiency: light and shade.

    PubMed

    De Sanctis, Vincenzo; Soliman, Ashraf; Yassin, Mohamed; Garofalo, Piernicola

    2015-03-01

    Evaluating children or adolescents with central adrenal insufficiency (CAI) is a difficult task in clinical practice, especially in subjects with hypothalamic-pituitary diseases and partial ACTH deficiency, or in those with recent pituitary surgery or brain irradiation when the adrenal cortex may still be responsive to stress. In 2008, a meta-analysis reported a three-step approach for evaluating patients at risk for CAI with no acute illness. In particular, the authors recommended the evaluation of morning cortisol, a low dose ACTH test (LDST) and the "gold standard" insulin tolerance test or metyrapone test if the low LDCT was not diagnostic. Cortisol and ACTH secretion exhibit significant fluctuation throughout the day. The reference ranges supplied by labs are so wide that they only flag up extremely low cortisol levels. Interpreting the results correctly can be difficult for a physician without an experience in adrenal dysfunctions. The lack of uniformity in these cut-off levels could in part be attributed to differences in study populations, variability of dynainic tests, the use of different serum cortisol assays and dissimilar cut-off peak serum cortisol response indicative of a normal axis response and the difference in the clinical context in which the studies were done. Therefore, Laboratories have to advertise the need to establish reference values for given populations, both for basal or stimulated hormone levels. Failure to apply this rule may elicit false-positive and more critically, false-negative results. LDST (1 pg synthetic ACTH as iv bolus with measurement of serum cortisol) has been proposed as a sensitive test for the diagnosis of CAl. However, the advantage of LDST compared with the high dose test may be offset by the technical difficulties inherent to dilution of 250 pg ampoules. Clinical judgment remains imperative especially regarding the use of glucocorticoid supplementation during extreme stress. PMID:25962205

  17. Update on adrenal insufficiency in patients with liver cirrhosis

    PubMed Central

    Trifan, Anca; Chiriac, Stefan; Stanciu, Carol

    2013-01-01

    Liver cirrhosis is a major cause of mortality worldwide, often with severe sepsis as the terminal event. Over the last two decades, several studies have reported that in septic patients the adrenal glands respond inappropriately to stimulation, and that the treatment with corticosteroids decreases mortality in such patients. Both cirrhosis and septic shock share many hemodynamic abnormalities such as hyperdynamic circulatory failure, decreased peripheral vascular resistance, increased cardiac output, hypo-responsiveness to vasopressors, increased levels of proinflammatory cytokines [interleukine(IL)-1, IL-6, tumor necrosis factor-alpha] and it has, consequently, been reported that adrenal insufficiency (AI) is common in critically ill cirrhotic patients. AI may also be present in patients with stable cirrhosis without sepsis and in those undergoing liver transplantation. The term hepato-adrenal syndrome defines AI in patients with advanced liver disease with sepsis and/or other complications, and it suggests that it could be a feature of liver disease per se, with a different pathogenesis from that of septic shock. Relative AI is the term given to inadequate cortisol response to stress. More recently, another term is used, namely “critical illness related corticosteroid insufficiency” to define “an inadequate cellular corticosteroid activity for the severity of the patient’s illness”. The mechanisms of AI in liver cirrhosis are not completely understood, although decreased levels of high-density lipoprotein cholesterol and high levels of proinflammatory cytokines and circulatory endotoxin have been suggested. The prevalence of AI in cirrhotic patients varies widely according to the stage of the liver disease (compensated or decompensated, with or without sepsis), the diagnostic criteria defining AI and the methodology used. The effects of corticosteroid therapy on cirrhotic patients with septic shock and AI are controversial. This review aims to summarize

  18. Neurosarcoidosis-associated central diabetes insipidus masked by adrenal insufficiency.

    PubMed

    Non, Lemuel; Brito, Daniel; Anastasopoulou, Catherine

    2015-01-01

    Central diabetes insipidus (CDI) is an infrequent complication of neurosarcoidosis (NS). Its presentation may be masked by adrenal insufficiency (AI) and uncovered by subsequent steroid replacement. A 45-year-old woman with a history of NS presented 2 weeks after abrupt cessation of prednisone with nausea, vomiting, decreased oral intake and confusion. She was diagnosed with secondary AI and intravenous hydrocortisone was promptly begun. Over the next few days, however, the patient developed severe thirst and polyuria exceeding 6 L of urine per day, accompanied by hypernatraemia and hypo-osmolar urine. She was presumed to have CDI due to NS, and intranasal desmopressin was administered. This eventually normalised her urine output and serum sodium. The patient was discharged improved on intranasal desmopressin and oral prednisone. AI may mask the manifestation of CDI because low serum cortisol impairs renal-free water clearance. Steroid replacement reverses this process and unmasks an underlying CDI.

  19. An overview of the nursing issues involved in caring for a child with adrenal insufficiency.

    PubMed

    Moloney, Sinéad; Murphy, Nuala; Collin, Jacqueline

    2015-09-01

    Adrenal insufficiency is an endocrine condition defined as the inadequate production or action of glucocorticoids, principally a steroid hormone called cortisol. While rare in childhood, it carries the risk of adrenal crisis in the event of a child becoming unwell as a result of intercurrent illness, injury or surgery. Children's nurses must be vigilant in caring for a child with adrenal insufficiency and have a clear understanding and awareness of the principles of emergency management at home and in hospital.

  20. Adrenal Insufficiency Associated with Small Cell Lung Cancer: A Case Report and Literature Review.

    PubMed

    Noguchi, Shingo; Torii, Ryo; Shimabukuro, Ikuko; Yamasaki, Kei; Kido, Takashi; Yoshii, Chiharu; Mukae, Hiroshi; Yatera, Kazuhiro

    2016-06-01

    A 78-year-old Japanese man with fatigue, appetite loss, skin hyperpigmentation, hypotension and hypoglycemia, visited our hospital to evaluate an abnormal chest X-ray and adrenal gland swelling in echography in February 2015. Chest computed tomography showed a mass lesion in the right lower lobe and bilateral adrenal swellings, and small cell lung cancer (SCLC) with bilateral adrenal metastasis was diagnosed after bronchoscopy. According to low levels of serum cortisol, elevated adrenocorticotropic hormone (ACTH) and rapid ACTH test, the diagnosis of adrenal insufficiency associated with SCLC was made. Treatment with hydrocortisone (20 mg/day) was started in addition to systemic chemotherapy with carboplatin and etoposide. The patient's symptoms were slightly improved, however, systemic chemotherapy was discontinued according to the patient's request after 1 course of chemotherapy. Thereafter, he received only supportive care, and his general condition gradually worsened and he ultimately died in August 2015. Adrenal insufficiency associated with SCLC, which is caused by tissue destruction more than 90% of the adrenal glands, is rare although adrenal metastasis is not rare in patients with lung cancer. The findings such as general fatigue, appetite loss, hypotension, and hyponatremia are often got follow up as findings of advanced cancer, but appropriate therapy for adrenal insufficiency, supplement of the adrenal corticosteroid hormone, may lead to a significant improvement in the symptoms and quality of life in clinical practice of lung cancer. Therefore, physicians must consider potential adrenal insufficiency in lung cancer patients with bilateral adrenal metastasis. PMID:27302729

  1. Acute adrenal insufficiency secondary to bilateral adrenal B-cell lymphoma: a case report and review of the literature

    PubMed Central

    De Miguel Sánchez, Carlos; Ruiz, Luis; González, Jose Luis; Hernández, Jose Luis

    2016-01-01

    Primary adrenal lymphoma is an extremely rare entity which constitutes less than 1% of extranodal lymphomas. Most cases present with bilateral adrenal masses and without extraadrenal involvement, which can lead to symptoms of adrenal insufficiency. The prognosis is usually poor and chemotherapy is the first-line treatment option. We report here on a 78-year-old man admitted to our Internal Medicine Department because of constitutional symptoms and high fever spikes. He was diagnosed with adrenal insufficiency and a CT-scan revealed bilateral adrenal masses of about 6 cm in diameter. A percutaneous biopsy was performed and the histological exam was consistent with diffuse large B cell lymphoma. A review of the literature of this unusual entity was also carried out. PMID:27170834

  2. Physiological Basis for the Etiology, Diagnosis, and Treatment of Adrenal Disorders: Cushing’s Syndrome, Adrenal Insufficiency, and Congenital Adrenal Hyperplasia

    PubMed Central

    Raff, Hershel; Sharma, Susmeeta T.; Nieman, Lynnette K.

    2014-01-01

    The hypothalamic-pituitary-adrenal (HPA) axis is a classic neuroendocrine system. One of the best ways to understand the HPA axis is to appreciate its dynamics in the variety of diseases and syndromes that affect it. Excess glucocorticoid activity can be due to endogenous cortisol overproduction (spontaneous Cushing’s syndrome) or exogenous glucocorticoid therapy (iatrogenic Cushing’s syndrome). Endogenous Cushing’s syndrome can be subdivided into ACTH-dependent and ACTH-independent, the latter of which is usually due to autonomous adrenal overproduction. The former can be due to a pituitary corticotroph tumor (usually benign) or ectopic ACTH production from tumors outside the pituitary; both of these tumor types overexpress the proopiomelanocortin gene. The converse of Cushing’s syndrome is the lack of normal cortisol secretion and is usually due to adrenal destruction (primary adrenal insufficiency) or hypopituitarism (secondary adrenal insufficiency). Secondary adrenal insufficiency can also result from a rapid discontinuation of long-term, pharmacological glucocorticoid therapy because of HPA axis suppression and adrenal atrophy. Finally, mutations in the steroidogenic enzymes of the adrenal cortex can lead to congenital adrenal hyperplasia and an increase in precursor steroids, particularly androgens. When present in utero, this can lead to masculinization of a female fetus. An understanding of the dynamics of the HPA axis is necessary to master the diagnosis and differential diagnosis of pituitary-adrenal diseases. Furthermore, understanding the pathophysiology of the HPA axis gives great insight into its normal control. PMID:24715566

  3. Association between megestrol acetate treatment and symptomatic adrenal insufficiency with hypogonadism in male patients with cancer.

    PubMed

    Dev, Rony; Del Fabbro, Egidio; Bruera, Eduardo

    2007-09-15

    Patients with advanced cancer may develop cachexia, which is often treated with megestrol acetate (MA). In addition to thromboembolic disease, MA may cause symptomatic suppression of the hypothalamic pituitary adrenal axis. In male patients with cancer, treatment with MA may also suppress the gonadal axis, resulting in symptomatic androgen deficiency. Three cases are presented to highlight the symptomatic burden of adrenal insufficiency and hypogonadism. Clinicians need an increased awareness of the complication of adrenal insufficiency secondary to MA treatment and a low threshold to test for adrenal and gonadal dysfunction in symptomatic male patients with advanced cancer.

  4. Role of toll-like receptors and inflammation in adrenal gland insufficiency.

    PubMed

    Kanczkowski, Waldemar; Zacharowski, Kai; Bornstein, Stefan R

    2010-01-01

    Adrenal gland insufficiency - the clinical manifestation of deficient production or action of adrenal steroids - is a life-threatening disorder. Among many factors which can predispose to primary adrenal failure, an autoimmune adrenalitis and infectious agents play a major role. The initial host defense against bacterial infections is executed primarily by the pattern recognition receptors, e.g. Toll-like receptors (TLRs), expressed in cells from the innate immune system. Upon activation, TLRs have been found to regulate various levels of innate and adaptive immunity as well as control tissue inflammation. TLRs are implicated in adrenal cell turnover and steroidogenesis during inflammation. Therefore, TLRs play a crucial role in the activation of adrenal inflammation mediating adrenal gland dysfunction during septicemia.

  5. [Adrenalitis].

    PubMed

    Saeger, W

    2016-05-01

    Inflammation of the adrenal glands is caused by autoimmunopathies or infections and can induce adrenal insufficiency. Autoimmune lymphocytic adrenalitis is often combined with other autoimmune diseases and the most frequent cause of Addison's disease; however, it only becomes clinically apparent when more than 90 % of the adrenal cortex has been destroyed. Histological features are characterized by lymphoplasmacytic inflammation leading to an increased destruction of adrenocortical tissue but less severe courses can also occur. The second most frequent form of adrenalitis is adrenal tuberculosis, showing typical granulomatous findings that are nearly always caused by spreading from a tuberculous pulmonary focus. Other bacterial as well as viral infections, such as Epstein-Barr virus (EBV), cytomegalovirus (CMV) and others, generally affect the adrenal glands only in patients with immunodeficiency disorders. In these infections, the adrenal cortex and medulla are frequently involved to roughly the same extent. Although surgical specimens from inflammatory adrenal lesions are extremely rare, the various forms of adrenalitis play an important role in the post-mortem examination of the adrenal glands for clarification of unclear causes of death (e.g. death during an Addisonian crisis). PMID:27099224

  6. A Case of Rathke's Cleft Cyst Associated with Transient Central Adrenal Insufficiency and Masked Diabetes Insipidus.

    PubMed

    Asakawa, Masahiro; Chin, Rina; Niitsu, Yoshihiro; Sekine, Tetsuo; Niwa, Arisa; Miyake, Atsuko; Inoshita, Naoko; Kawamura, Mitsunobu; Ogawa, Yoshihiro; Hirata, Yukio

    2014-01-01

    A 73-year-old woman admitted to our hospital because of headache, poor appetite, malaise, weight loss, and vomiting was found to have central adrenal insufficiency and thyrotoxicosis due to silent thyroiditis. Polyuria developed after replacement with glucocorticoid (masked diabetes insipidus), which was controlled with nasal administration of desmopressin. Magnetic resonance imaging of the brain showed a large cystic pituitary mass (18 × 18 × 12 mm) extending suprasellarly to the optic chiasm. Transsphenoidal surgery revealed that the pituitary tumor was Rathke's cleft cyst. Following surgery, replacement with neither glucocorticoid nor desmopressin was needed any more. Therefore, it is suggested that Rathke's cleft cyst is responsible for the masked diabetes insipidus and the central insufficiency. Furthermore, it is speculated that thyrotoxicosis with painless thyroiditis might induce changes from subclinical adrenal insufficiency to transiently overt insufficiency.

  7. An acute adrenal insufficiency revealing pituitary metastases of lung cancer in an elderly patient

    PubMed Central

    Marmouch, Hela; Arfa, Sondes; Mohamed, Saoussen Cheikh; Slim, Tensim; Khochtali, Ines

    2016-01-01

    Metastases of solid tumors to the pituitary gland are often asymptomatic or appereas as with diabetes insipid us. Pituitary metastases more commonly affect the posterior lobe and the infundibulum than the anterior lobe. The presentation with an acute adrenal insufficiency is a rare event. A 69-year-old men presented with vomiting, low blood pressure and hypoglycemia. Hormonal exploration confirmed a hypopituitarism. Appropriate therapy was initiated urgently. The hypothalamic-pituitary MRI showed a pituitary hypertrophy, a nodular thickening of the pituitary stalk. The chest X Rays revealed pulmonary opacity. Computed tomography scan of the chest showed a multiples tumors with mediastinal lymphadenopathy. Bronchoscopy and biopsy demonstrated a pulmonary adenocarcinoma. Hence we concluded to a lung cancer with multiple pituitary and adrenal gland metastases. This case emphasizes the need for an etiological investigation of acute adrenal insufficiency after treatment of acute phase. PMID:27200139

  8. Resveratrol alleviates endotoxemia-associated adrenal insufficiency by suppressing oxidative/nitrative stress.

    PubMed

    Duan, Guo-Li; Wang, Chang-Nan; Liu, Yu-Jian; Yu, Qing; Tang, Xiao-Lu; Ni, Xin; Zhu, Xiao-Yan

    2016-06-30

    We have recently demonstrated that endotoxin causes oxidative stress and overproduction of nitric oxide in adrenal glands, thereby leading to adrenocortical insufficiency. The aim of this study is to investigate the effects of resveratrol, a natural plant polyphenol with anti-oxidant and anti-nitrative properties, on endotoxemia-associated adrenocortical insufficiency. Resveratrol was administered immediately before injection of lipopolysaccharide (LPS). Twenty four hours later, the adrenocorticotropic hormone (ACTH) stimulation tests was been performed to measure the plasma corticosterone level and the adrenal gland tissues were collected for histopathologic examination, and determination of malondialdehyde (MDA), total antioxidant capacity (T-AOC), superoxide dismutase (SOD) activity, catalase (CAT) activity, inducible nitric oxide synthase (iNOS) expression, nitric oxide (NO) and peroxynitrite production. Treatment with resveratrol significantly inhibited endotoxemia-induced iNOS expression, NO production, and peroxynitrite formation and also attenuated LPS-induced oxidative stress in the adrenal gland, as evidenced by the decrease of pro-oxidant biomarker (MDA), and the increases of anti-oxidant biomarkers (T-AOC, CAT and SOD activity). H&E staining demonstrated that administration of LPS resulted in increased into the adrenal gland. H&E-stained sections of adrenal glands demonstrated signs of leukocyte infiltration and hemorrhage during endotoxemia, which were significantly improved by resveratrol treatment. In addition, resveratrol reversed the LPS-induced downregulation of ACTH receptor and silent information regulator 1 (SIRT1) in adrenal gland, as well as adrenocortical hyporesponsiveness to ACTH. Resveratrol exerts protective effects against endotoxemia-associated adrenocortical insufficiency by suppressing oxidative/nitrative stress. These findings support the potential for resveratrol as a possible pharmacological agent to improve adrenocortical

  9. Adrenal Insufficiency under Standard Dosage of Glucocorticoid Replacement after Unilateral Adrenalectomy for Cushing's Syndrome.

    PubMed

    Fujii, Kentaro; Miyashita, Kazutoshi; Kurihara, Isao; Hiratsuka, Ken; Sato, Seiji; Yokota, Kenichi; Kobayashi, Sakiko; Shibata, Hirotaka; Itoh, Hiroshi

    2016-01-01

    Glucocorticoid replacement is needed for patients after adrenal surgery for Cushing's syndrome; however, the adequate dosage is not easily determined. The patient was a 62-year-old woman who has had hypertension for 5 years and presented with heart failure due to hypertrophic cardiomyopathy. She consulted with us because of general fatigue, facial edema, and muscle weakness and was diagnosed with Cushing's syndrome. A laparoscopic left adrenalectomy was performed, standard dosage of postoperative replacement was administered, and she was discharged with 30 mg/day of hydrocortisone (cortisol). However, she suffered from loss of appetite and was transferred to an emergency unit with the symptoms of adrenal insufficiency on postoperative day 15. After initial hydrocortisone replacement with 200 mg/day, the dosage was gradually decreased during hospitalization; however, reduction of hydrocortisone dosage lower than 60 mg/day was difficult because of nausea and fatigue. Her circadian cortisol profile after hydrocortisone administration showed delayed and lowered peaks, which suggested that hydrocortisone absorption in the intestine was impaired. Therefore, complicated heart failure may have led to the adrenal insufficiency in the patient. In such cases, we should consider postoperative administration of more than the standard dosage of hydrocortisone to avoid adrenal insufficiency after surgery for Cushing's syndrome. PMID:27375907

  10. Adrenal Insufficiency under Standard Dosage of Glucocorticoid Replacement after Unilateral Adrenalectomy for Cushing's Syndrome

    PubMed Central

    Fujii, Kentaro; Kurihara, Isao; Hiratsuka, Ken; Sato, Seiji; Yokota, Kenichi; Kobayashi, Sakiko; Shibata, Hirotaka; Itoh, Hiroshi

    2016-01-01

    Glucocorticoid replacement is needed for patients after adrenal surgery for Cushing's syndrome; however, the adequate dosage is not easily determined. The patient was a 62-year-old woman who has had hypertension for 5 years and presented with heart failure due to hypertrophic cardiomyopathy. She consulted with us because of general fatigue, facial edema, and muscle weakness and was diagnosed with Cushing's syndrome. A laparoscopic left adrenalectomy was performed, standard dosage of postoperative replacement was administered, and she was discharged with 30 mg/day of hydrocortisone (cortisol). However, she suffered from loss of appetite and was transferred to an emergency unit with the symptoms of adrenal insufficiency on postoperative day 15. After initial hydrocortisone replacement with 200 mg/day, the dosage was gradually decreased during hospitalization; however, reduction of hydrocortisone dosage lower than 60 mg/day was difficult because of nausea and fatigue. Her circadian cortisol profile after hydrocortisone administration showed delayed and lowered peaks, which suggested that hydrocortisone absorption in the intestine was impaired. Therefore, complicated heart failure may have led to the adrenal insufficiency in the patient. In such cases, we should consider postoperative administration of more than the standard dosage of hydrocortisone to avoid adrenal insufficiency after surgery for Cushing's syndrome. PMID:27375907

  11. Adrenal Insufficiency under Standard Dosage of Glucocorticoid Replacement after Unilateral Adrenalectomy for Cushing's Syndrome.

    PubMed

    Fujii, Kentaro; Miyashita, Kazutoshi; Kurihara, Isao; Hiratsuka, Ken; Sato, Seiji; Yokota, Kenichi; Kobayashi, Sakiko; Shibata, Hirotaka; Itoh, Hiroshi

    2016-01-01

    Glucocorticoid replacement is needed for patients after adrenal surgery for Cushing's syndrome; however, the adequate dosage is not easily determined. The patient was a 62-year-old woman who has had hypertension for 5 years and presented with heart failure due to hypertrophic cardiomyopathy. She consulted with us because of general fatigue, facial edema, and muscle weakness and was diagnosed with Cushing's syndrome. A laparoscopic left adrenalectomy was performed, standard dosage of postoperative replacement was administered, and she was discharged with 30 mg/day of hydrocortisone (cortisol). However, she suffered from loss of appetite and was transferred to an emergency unit with the symptoms of adrenal insufficiency on postoperative day 15. After initial hydrocortisone replacement with 200 mg/day, the dosage was gradually decreased during hospitalization; however, reduction of hydrocortisone dosage lower than 60 mg/day was difficult because of nausea and fatigue. Her circadian cortisol profile after hydrocortisone administration showed delayed and lowered peaks, which suggested that hydrocortisone absorption in the intestine was impaired. Therefore, complicated heart failure may have led to the adrenal insufficiency in the patient. In such cases, we should consider postoperative administration of more than the standard dosage of hydrocortisone to avoid adrenal insufficiency after surgery for Cushing's syndrome.

  12. Circadian rise in maternal glucocorticoid prevents pulmonary dysplasia in fetal mice with adrenal insufficiency.

    PubMed

    Venihaki, M; Carrigan, A; Dikkes, P; Majzoub, J A

    2000-06-20

    The hypothalamic-pituitary-adrenal (HPA) axis, including hypothalamic corticotropin-releasing hormone (CRH) and pituitary corticotropin, is one of the first endocrine systems to develop during fetal life, probably because glucocorticoid secretion is necessary for the maturation of many essential fetal organs. Consistent with this, pregnant mice with an inactivating mutation in the Crh gene deliver CRH-deficient offspring that die at birth with dysplastic lungs, which can be prevented by prenatal maternal glucocorticoid treatment. But children lacking the ability to synthesize cortisol (because of various genetic defects in adrenal gland development or steroidogenesis) are not born with respiratory insufficiency or abnormal lung development, suggesting that the transfer of maternal glucocorticoid across the placenta might promote fetal organ maturation in the absence of fetal glucocorticoid production. We used pregnant mice with a normal HPA axis carrying fetuses with CRH deficiency to characterize the relative contributions of the fetal and maternal adrenal to the activity of the fetal HPA axis, and related these findings to fetal lung development. We found that in the presence of fetal adrenal insufficiency, normal fetal lung development is maintained by the transfer of maternal glucocorticoid to the fetus, specifically during the circadian peak in maternal glucocorticoid secretion.

  13. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

    PubMed Central

    Gineau, Laure; Cognet, Céline; Kara, Nihan; Lach, Francis Peter; Dunne, Jean; Veturi, Uma; Picard, Capucine; Trouillet, Céline; Eidenschenk, Céline; Aoufouchi, Said; Alcaïs, Alexandre; Smith, Owen; Geissmann, Frédéric; Feighery, Conleth; Abel, Laurent; Smogorzewska, Agata; Stillman, Bruce; Vivier, Eric; Casanova, Jean-Laurent; Jouanguy, Emmanuelle

    2012-01-01

    Natural killer (NK) cells are circulating cytotoxic lymphocytes that exert potent and nonredundant antiviral activity and antitumoral activity in the mouse; however, their function in host defense in humans remains unclear. Here, we investigated 6 related patients with autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency characterized by a lack of the CD56dim NK subset. Using linkage analysis and fine mapping, we identified the disease-causing gene, MCM4, which encodes a component of the MCM2-7 helicase complex required for DNA replication. A splice-site mutation in the patients produced a frameshift, but the mutation was hypomorphic due to the creation of two new translation initiation methionine codons downstream of the premature termination codon. The patients’ fibroblasts exhibited genomic instability, which was rescued by expression of WT MCM4. These data indicate that the patients’ growth retardation and adrenal insufficiency likely reflect the ubiquitous but heterogeneous impact of the MCM4 mutation in various tissues. In addition, the specific loss of the NK CD56dim subset in patients was associated with a lower rate of NK CD56bright cell proliferation, and the maturation of NK CD56bright cells toward an NK CD56dim phenotype was tightly dependent on MCM4-dependent cell division. Thus, partial MCM4 deficiency results in a genetic syndrome of growth retardation with adrenal insufficiency and selective NK deficiency. PMID:22354167

  14. Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

    PubMed Central

    Chan, Li F.; Campbell, Daniel C.; Novoselova, Tatiana V.; Clark, Adrian J. L.; Metherell, Louise A.

    2015-01-01

    Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particular gene affected, meaning that rapid and accurate diagnosis is imperative for effective treatment of the patient. Common practice is for candidate genes to be sequenced individually, which is a time-consuming process and complicated by overlapping clinical phenotypes. However, with the availability, and increasing cost effectiveness of whole-exome sequencing, there is the potential for this to become a powerful diagnostic tool. Here, we report the results of whole-exome sequencing of 43 patients referred to us with a diagnosis of familial glucocorticoid deficiency (FGD) who were mutation negative for MC2R, MRAP, and STAR the most commonly mutated genes in FGD. WES provided a rapid genetic diagnosis in 17/43 sequenced patients, for the remaining 60% the gene defect may be within intronic/regulatory regions not covered by WES or may be in gene(s) representing novel etiologies. The diagnosis of isolated or familial glucocorticoid deficiency was only confirmed in 3 of the 17 patients, other genetic diagnoses were adrenal hypo- and hyperplasia, Triple A, and autoimmune polyendocrinopathy syndrome type I, emphasizing both the difficulty of phenotypically distinguishing between disorders of PAI and the utility of WES as a tool to achieve this. PMID:26300845

  15. Relative adrenal insufficiency in mice deficient in 5α-reductase 1

    PubMed Central

    Livingstone, Dawn E W; Di Rollo, Emma M; Yang, Chenjing; Codrington, Lucy E; Mathews, John A; Kara, Madina; Hughes, Katherine A; Kenyon, Christopher J; Walker, Brian R; Andrew, Ruth

    2014-01-01

    Patients with critical illness or hepatic failure exhibit impaired cortisol responses to ACTH, a phenomenon known as ‘relative adrenal insufficiency’. A putative mechanism is that elevated bile acids inhibit inactivation of cortisol in liver by 5α-reductases type 1 and type 2 and 5β-reductase, resulting in compensatory downregulation of the hypothalamic–pituitary–adrenal axis and adrenocortical atrophy. To test the hypothesis that impaired glucocorticoid clearance can cause relative adrenal insufficiency, we investigated the consequences of 5α-reductase type 1 deficiency in mice. In adrenalectomised male mice with targeted disruption of 5α-reductase type 1, clearance of corticosterone was lower after acute or chronic (eightfold, P<0.05) administration, compared with WT control mice. In intact 5α-reductase-deficient male mice, although resting plasma corticosterone levels were maintained, corticosterone responses were impaired after ACTH administration (26% lower, P<0.05), handling stress (2.5-fold lower, P<0.05) and restraint stress (43% lower, P<0.05) compared with WT mice. mRNA levels of Nr3c1 (glucocorticoid receptor), Crh and Avp in pituitary or hypothalamus were altered, consistent with enhanced negative feedback. These findings confirm that impaired peripheral clearance of glucocorticoids can cause ‘relative adrenal insufficiency’ in mice, an observation with important implications for patients with critical illness or hepatic failure, and for patients receiving 5α-reductase inhibitors for prostatic disease. PMID:24872577

  16. Diabetes insipidus and adrenal insufficiency in a patient with metastatic breast cancer.

    PubMed

    Netelenbos, T; Nooij, M A; Nortier, J W R

    2006-09-01

    A patient previously treated for bilateral breast cancer with mastectomy, radiation therapy and in remission on hormonal therapy for more than five years presented with abdominal symptoms from breast cancer relapse. She developed inappropriate polyuria and hypernatraemia, which responded to desmopressin. In combination with the absence of a high signal from the posterior lobe of the pituitary on MRI , these data indicated the presence of partial central diabetes insipidus. The anterior pituitary showed partial failure (low follicle-stimulating hormone, luteinising hormone and insulin-like growth factor-1 levels). Furthermore, primary adrenal insufficiency had developed, ascribed to bilateral tumour invasion of the adrenals. This rare combination of endocrinological failures in a patient with metastatic breast cancer is discussed.

  17. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

    PubMed Central

    Buonocore, Federica; Saka, Nurcin; Ozbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Bas, Firdevs; Darcan, Sukran; Bideci, Aysun; Guven, Ayla; Demir, Korcan; Akinci, Aysehan; Buyukinan, Muammer; Aydin, Banu Kucukemre; Turan, Serap; Agladioglu, Sebahat Yilmaz; Atay, Zeynep; Abali, Zehra Yavas; Tarim, Omer; Catli, Gonul; Yuksel, Bilgin; Akcay, Teoman; Yildiz, Metin; Ozen, Samim; Doger, Esra; Demirbilek, Huseyin; Ucar, Ahmet; Isik, Emregul; Ozhan, Bayram; Bolu, Semih; Ozgen, Ilker Tolga; Suntharalingham, Jenifer P.; Achermann, John C.

    2016-01-01

    Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0–18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c.IVS3ds+1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the

  18. Prescription of medroxyprogesterone acetate to a patient with pedophilia, resulting in Cushing's syndrome and adrenal insufficiency.

    PubMed

    Krueger, Richard B; Hembree, Wylie; Hill, Michael

    2006-04-01

    This article provides a case report of a patient with pedophilia who was treated over a 4-year period with medroxyprogesterone acetate (MPA) at a dose of 300 mg/day and as a consequence developed Cushing's Syndrome and adrenal insufficiency, for which he was treated and from which he recovered. He also reported a hypersexual reaction to his own past cessation of MPA. Gonadotropin-releasing hormone agonists, which have a more benign side-effect profile than MPA, are suggested as an alternative to MPA.

  19. Guidelines for the diagnosis and treatment of adrenal insufficiency in the adult.

    PubMed

    de Miguel Novoa, Paz; Vela, Elena Torres; García, Nuria Palacios; Rodríguez, Manuela Moreira; Guerras, Icíar Solache; Martínez de Salinas Santamaría, María de Los Ángeles; Masó, Anna Aulinas

    2014-09-01

    Adrenal insufficiency (AI) is a disease characterized by a deficient production or action of glucocorticoids, with or without deficiency in mineral corticoids and/or adrenal androgens. It can result from disease intrinsic to the adrenal cortex (primary AI), from pituitary diseases that hamper the release of corticotropin (secondary AI) or from hypothalamic disorders that impair the secretion of the corticotropin-releasing hormone (tertiary AI). It is a disease with a low prevalence but its impact on the affected individual is very high as it can be life-threathening if not treated or lead to health problems if inadequately treated. However, currently there are no specific guidelines for the management of this disease. Therefore, at the proposal of the Spanish Society of Endocrinology and Nutrition (SEEN) board, a task-force under the Neuroendocrinology Knowledge Area of the SEEN was established, with the mandate of updating the diagnosis and treatment of AI. In fulfilment of this mandate the task-force has elaborated the present guide that, based on a comprehensive review of literature, is intended to provide an answer to questions related to the management of this disease. It is, therefore, an essentially practical document, mainly aimed at guiding the health professionals involved in the care of IA patients.

  20. Adrenal insufficiency in a child following unilateral excision of a dual-hormone secreting phaeochromocytoma

    PubMed Central

    Sjoeholm, Annika; Li, Cassandra; Leem, Chaey; Lee, Aiden; Stack, Maria P; Hofman, Paul L

    2015-01-01

    Summary Phaeochromocytomas are a rare clinical entity, with dual hormone-secreting lesions particularly uncommon, seen in <1%. ACTH is the most common hormone co-produced, and is potentially lethal if not diagnosed. We present the case of a previously well 10-year-old boy, who presented acutely with a hypertensive crisis and was found to have a unilateral, non-syndromic phaeochromocytoma. Medical stabilization of his hypertension was challenging, and took 3 weeks to achieve, before proceeding to unilateral adrenalectomy. Post-operatively the child experienced severe fatigue and was subsequently confirmed to have adrenal insufficiency. He improved markedly with hydrocortisone replacement therapy, which is ongoing 6 months post-operatively. In retrospect this likely represents unrecognized, sub-clinical ACTH-dependent Cushing's syndrome secondary to an ACTH/or precursor dual-hormone secreting phaeochromocytoma. At follow-up, his hypertension had resolved, there was no biochemical evidence of recurrence of the phaeochromocytoma, and genetic analysis was indicative of a sporadic lesion. Learning points Dual hormone secreting phaeochromocytomas with ACTH/or a precursor may cause secondary adrenal insufficiency following surgical removal.The concurrent features of Cushing's syndrome can be mild and easily overlooked presenting diagnostic and management pitfalls.As concomitant syndromes of hormone excess are rare in phaeochromocytomas; the diagnosis requires a high index of suspicion.Serial/diurnal cortisol levels, ACTH measurement +/− low dose dexamethasone suppression (when clinically stable, appropriate adrenergic blockade in place, and well supervised), can all be considered as needed. PMID:26113981

  1. Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report.

    PubMed

    Lee, Hae Won; Kang, Jin Du; Yeo, Chang Woo; Yoon, Sung Woon; Lee, Kwang Jae; Choi, Mun Ki

    2016-08-01

    Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory. PMID:27478349

  2. Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report

    PubMed Central

    2016-01-01

    Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory. PMID:27478349

  3. Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report.

    PubMed

    Lee, Hae Won; Kang, Jin Du; Yeo, Chang Woo; Yoon, Sung Woon; Lee, Kwang Jae; Choi, Mun Ki

    2016-08-01

    Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.

  4. [SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency].

    PubMed

    Martinerie, L; Bouvattier, C; Lombes, M

    2009-09-01

    Steroidogenic factor 1 (SF-1) gene, identified by Keith Parker in 1992, encodes for an orphan nuclear receptor, NR5A1, whose expression is detected during fetal life in adrenal and gonadal steroidogenic tissues, but also in the developing hypothalamus and in pituitary gonadotropic cells. SF-1 knock-out mouse models exhibit complete adrenal and gonadal agenesis. Human mutations of this transcription factor, were initially associated with primary adrenal failure and male gonadal dysgenesis with various degrees of under androgenization. More recently, identification of novel SF-1 mutations responsible for isolated 46, XY gonadal dysgenesis or 46, XX primary ovarian insufficiency, underscores its central role in the control and maintenance of adrenal and reproductive functions. A better understanding in the regulatory mechanisms of SF-1 signaling pathway, will open new avenues for diagnostic and therapeutic managements of sex differentiation disorders and infertilities.

  5. Management of achalasia

    PubMed Central

    Dughera, Luca; Chiaverina, Michele; Cacciotella, Luca; Cisarò, Fabio

    2011-01-01

    Several theories on the etiology and pathophysiology of achalasia have been reported but, to date, it is widely accepted that loss of peristalsis and absence of swallow-induced relaxation of the lower esophageal sphincter are the main functional abnormalities. Treatment of achalasia often aims to alleviate the symptoms of achalasia and not to correct the underlying disorder. Medical therapy has poor efficacy, so patients who are good surgical candidates should be offered either laparoscopic myotomy or pneumatic balloon dilatation. Their own preference should be included in the decision-making process, and treatment should meet the local expertise with these procedures. Laparoscopic surgical esophagomyotomy is a safe and effective modality. It can be considered as initial management or as secondary treatment if the patient does not respond to less invasive modalities. Pneumatic dilatation has proven to be a safe, effective, and durable modality of treatment when performed by experienced individuals, and appears to be the most cost-effective alternative. For patients with multiple comorbidities and for elderly patients, who are not good surgical candidates, endoscopic injection of botulinum toxin should be considered a safe and effective procedure. However, its positive effect diminishes over time, and the need for multiple repeated sessions must be taken into consideration. In the management of patients with achalasia, nutritional aspects play an important role. When lifestyle changes are insufficient, it is necessary to proceed to percutaneous gastrostomy under radiological guidance. In the future, intraluminal myotomy or endoscopic mucosectomy will possibly be an option. Further studies are needed to investigate the role of immunosuppressive therapies in those cases in which an autoimmune etiology is suspected. PMID:21694870

  6. Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

    PubMed Central

    Bornstein, Stefan R.; Allolio, Bruno; Arlt, Wiebke; Barthel, Andreas; Don-Wauchope, Andrew; Hammer, Gary D.; Husebye, Eystein S.; Merke, Deborah P.; Murad, M. Hassan; Stratakis, Constantine A.; Torpy, David J.

    2016-01-01

    Objective: This clinical practice guideline addresses the diagnosis and treatment of primary adrenal insufficiency. Participants: The Task Force included a chair, selected by The Clinical Guidelines Subcommittee of the Endocrine Society, eight additional clinicians experienced with the disease, a methodologist, and a medical writer. The co-sponsoring associations (European Society of Endocrinology and the American Association for Clinical Chemistry) had participating members. The Task Force received no corporate funding or remuneration in connection with this review. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to determine the strength of recommendations and the quality of evidence. Consensus Process: The evidence used to formulate recommendations was derived from two commissioned systematic reviews as well as other published systematic reviews and studies identified by the Task Force. The guideline was reviewed and approved sequentially by the Endocrine Society's Clinical Guidelines Subcommittee and Clinical Affairs Core Committee, members responding to a web posting, and the Endocrine Society Council. At each stage, the Task Force incorporated changes in response to written comments. Conclusions: We recommend diagnostic tests for the exclusion of primary adrenal insufficiency in all patients with indicative clinical symptoms or signs. In particular, we suggest a low diagnostic (and therapeutic) threshold in acutely ill patients, as well as in patients with predisposing factors. This is also recommended for pregnant women with unexplained persistent nausea, fatigue, and hypotension. We recommend a short corticotropin test (250 μg) as the “gold standard” diagnostic tool to establish the diagnosis. If a short corticotropin test is not possible in the first instance, we recommend an initial screening procedure comprising the measurement of morning plasma ACTH

  7. [Primary adrenal insufficiency as the form of onset of adrenoleukodystrophy in a 4-year-old boy].

    PubMed

    Tornero Patricio, Sebastián; de la Vega, José Antonio Bermúdez; Nehme Alvarez, Daniel; Gentil González, Francisco Javier; Lluch Fernández, María Dolores; González Hachero, José

    2009-01-01

    X-linked adrenoleukodystrophy is an inherited metabolic disease caused by the accumulation of saturated very long chain fatty acids (VLCFA). Given that the form of presentation can be primary adrenal insufficiency, diagnosis in affected males is important. Patient was a 4-year-old boy with attention deficit hyperactivity disorder, cutaneous-mucosal hyperpigmentation, and dehydration with hyponatremia and hyperpotassemia was diagnosed with adrenoleukodystrophy presenting as primary adrenal insufficiency. Antiadrenal antibodies: negative. Plasma VLCFA: C(26:0)=1.25mg/ml (0.18-0.48), C(24:0)/C(22:0) =1.53 (< 1), and C(26:0)/ C(22:0)=0.04 (< 0.02). Abdominal computed tomography: small adrenal glands. Cranial magnetic resonance imaging and evoked potentials: normal at diagnosis and with signs of white matter demyelination after 2 years of follow-up. Testing for an autoimmune etiology and adrenoleukodystrophy is important in boys with primary adrenal insufficiency before Addison's disease is diagnosed.

  8. Adrenal glands

    MedlinePlus

    ... disorders , infections, tumors, and bleeding. Related topics: Addison disease Adrenal insufficiency Congenital adrenal hyperplasia Cushing syndrome Diabetes mellitus - secondary Glucocorticoid medications Hirsutism Hump ...

  9. No Postoperative Adrenal Insufficiency in a Patient with Unilateral Cortisol-Secreting Adenomas Treated with Mifepristone Before Surgery

    PubMed Central

    Saroka, Rachel M.; Kane, Michael P.; Robinson, Lawrence; Busch, Robert S.

    2016-01-01

    BACKGROUND Glucocorticoid replacement is commonly required to treat secondary adrenal insufficiency after surgical resection of unilateral cortisol-secreting adrenocortical adenomas. Here, we describe a patient with unilateral cortisol-secreting adenomas in which the preoperative use of mifepristone therapy was associated with recovery of the hypothalamic–pituitary–adrenal (HPA) axis, eliminating the need for postoperative glucocorticoid replacement. CASE PRESENTATION A 66-year-old Caucasian man with type 2 diabetes mellitus, hyperlipidemia, hypertension, and obesity was hospitalized for Fournier’s gangrene and methicillin-resistant Staphylococcus aureus sepsis. Abdominal computed tomography scan revealed three left adrenal adenomas measuring 1.4, 2.1, and 1.2 cm and an atrophic right adrenal gland. Twenty-four-hour urinary free cortisol level was elevated (237 µg/24 hours, reference range 0–50 µg/24 hours). Hormonal evaluation after resolution of the infection showed an abnormal 8 mg overnight dexamethasone suppression test (cortisol postdexamethasone 14.5 µg/dL), suppressed adrenocorticotropic hormone (ACTH; <5 pg/mL, reference range 7.2–63.3 pg/mL), and low-normal dehydroepiandrosterone sulfate (50.5 µg/dL, male reference range 30.9–295.6 µg/dL). Because of his poor medical condition and uncontrolled diabetes, his Cushing’s syndrome was treated with medical therapy before surgery. Mifepristone therapy was started and, within five months, his diabetes was controlled and insulin discontinued. The previously suppressed ACTH increased to above normal range accompanied by an increase in dehydroepiandrosterone sulfate levels, indicating recovery of the HPA axis and atrophic contralateral adrenal gland. The patient received one precautionary intraoperative dose of hydrocortisone and none thereafter. Two days postoperatively, ACTH (843 pg/mL) and cortisol levels (44.8 µg/dL) were significantly elevated, reflecting an appropriate HPA axis response to

  10. Brain ultrasonographic findings of late-onset circulatory dysfunction due to adrenal insufficiency in preterm infants

    PubMed Central

    2016-01-01

    Purpose: The aim of this study was to characterize the brain ultrasonographic findings of late-onset circulatory dysfunction (LCD) due to adrenal insufficiency (AI) in preterm infants. Methods: Among the 257 preterm infants born at <33 weeks of gestation between December 2009 and February 2014 at our institution, 35 preterm infants were diagnosed with AI. Brain ultrasonographic findings were retrospectively analyzed before and after LCD in 14 preterm infants, after exclusion of the other 21 infants with AI due to the following causes: death (n=2), early AI (n=5), sepsis (n=1), and patent ductus arteriosus (n=13). Results: Fourteen of 257 infants (5.4%) were diagnosed with LCD due to AI. The age at LCD was a median of 18.5 days (range, 9 to 32 days). The last ultrasonographic findings before LCD occurred showed grade 1 periventricular echogenicity (PVE) in all 14 patients and germinal matrix hemorrhage (GMH) with focal cystic change in one patient. Ultrasonographic findings after LCD demonstrated no significant change in grade 1 PVE and no new lesions in eight (57%), grade 1 PVE with newly appearing GMH in three (21%), and increased PVE in three (21%) infants. Five infants (36%) showed new development (n=4) or increased size (n=1) of GMH. Two of three infants (14%) with increased PVE developed cystic periventricular leukomalacia (PVL) and rapid progression to macrocystic encephalomalacia. Conclusion: LCD due to AI may be associated with the late development of GMH, increased PVE after LCD, and cystic PVL with rapid progression to macrocystic encephalomalacia. PMID:27156563

  11. Multidrug-Resistant Tuberculosis and Its Association with Adrenal Insufficiency: Assessment with the Low-Dose ACTH Stimulation Test

    PubMed Central

    Rodríguez-Gutiérrez, René; Rendon, Adrian; Barrera-Sánchez, Maximiliano; Carlos-Reyna, Kevin Erick Gabriel; Álvarez-Villalobos, Neri Alejandro; González-Saldivar, Gloria; González-González, José Gerardo

    2016-01-01

    Background. Multidrug-resistant tuberculosis (MDR-TB) is a major public health care concern that affects the life of millions of people around the world. The association of tuberculosis and adrenal insufficiency is well known; however, it is thought to be less prevalent every time. A spike in TB incidence and a lack of evidence of this association in patients with MDR-TB call for reassessment of an illness (adrenal dysfunction) that if not diagnosed could seriously jeopardize patients' health. Objective. To determine the prevalence of adrenocortical insufficiency in patients with MDR-TB using the low-dose (1 μg) ACTH stimulation test at baseline and at 6–12 months of follow-up after antituberculosis treatment and culture conversion. Methods. A total of 48 men or women, aged ≥18 years (HIV-negative patients diagnosed with pulmonary MDR-TB) were included in this prospective observational study. Blood samples for serum cortisol were taken at baseline and 30 and 60 minutes after 1 μg ACTH stimulation at our tertiary level university hospital before and after antituberculosis treatment. Results. Forty-seven percent of subjects had primary MDR-TB; 43.8% had type 2 diabetes; none were HIV-positive. We found at enrollment 2 cases (4.2%) of adrenal insufficiency taking 500 nmol/L as the standard cutoff point value and 4 cases (8.3%) alternatively, using 550 nmol/L. After antituberculosis intensive phase drug-treatment and a negative mycobacterial culture (10.2 ± 3.6 months) adrenocortical function was restored in all cases. Conclusions. In patients with MDR-TB, using the low-dose ACTH stimulation test, a low prevalence of mild adrenal insufficiency was observed. After antituberculosis treatment adrenal function was restored in all cases. Given the increasing and worrying epidemic of MDR-TB these findings have important clinical implications that may help clinicians and patients make better decisions when deciding to test for adrenocortical dysfunction or

  12. [The state of sympathetic-adrenal system in patients with chronic cardiac insufficiency].

    PubMed

    Nigmatullin, R R; Kirillova, V V; Dzhordzhikiia, R K; Kudrin, V S; Klodt, P M

    2009-01-01

    Activation of sympato-adrenal system plays an important role in the development of chronic cardiac failure (CCF). However, its relation to morpho-functional state of myocardium in CCF patients is virtually unknown. HPLC with electrochemical detection was used to determine plasma noradrenalin, adrenalin, and their precursors, 3,4-dioxyphenylalanine (DOPA) and dopamine, in patients with different morpho-functional changes in myocardium. The study demonstrated enhanced activity of sympato-adrenal system in patients with CCF. It showed for the first time that activity of sympato-adrenal system in CCF patients depends on the morpho-functional status of myocardium.

  13. Just another abdominal pain? Psoas abscess-like metastasis in large cell lung cancer with adrenal insufficiency.

    PubMed

    Bernardino, Vera; Val-Flores, Luis Silva; Dias, João Lopes; Bento, Luís

    2015-01-01

    The authors report the case of a 69-year-old man with chronic obstructive pulmonary disease and previous pulmonary tuberculosis, who presented to the emergency department with abdominal and low back pain, anorexia and weight loss, rapidly evolving into shock. An initial CT scan revealed pulmonary condensation with associated cavitation and an iliopsoas mass suggestive of a psoas abscess. He was admitted in an intensive care unit unit; after a careful examination and laboratory assessment, the aetiology was yet undisclosed. MRI showed multiple retroperitoneal lymphadenopathies, bulky nodular adrenal lesions and bilateral iliac lytic lesions. Hypocortisolism was detected and treated with steroids. A CT-guided biopsy to the psoas mass and lytic lesions identified infiltration of non-small lung carcinoma. The patient died within days. Psoas metastases and adrenal insufficiency as initial manifestations of malignancy are rare and can be misdiagnosed, particularly in the absence of a known primary tumour. PMID:26063108

  14. Quality of Life and Life Expectancy in Patients with Adrenal Insufficiency: What Is True and What Is Urban Myth?

    PubMed

    Burger-Stritt, Stephanie; Pulzer, Alina; Hahner, Stefanie

    2016-01-01

    For a long time it has been assumed that patients with chronic adrenal insufficiency under established replacement therapy have a normal life expectancy and a normal everyday life. Recent studies now indicate both an impairment of quality of life (QoL) with a negative impact on daily life and increased mortality in a significant number of patients. The clinical presentation of patients varies considerably. While some neither suffer from reduced QoL nor from adrenal crisis, others are significantly more affected by the disease. Long-term management of patients is thus more challenging and goes far beyond identification of the correct maintenance dose of corticosteroids. The mortality from adrenal crisis is still high and prevention should be a top priority for endocrinologists. Concepts of replacement therapy as well as patient education and emergency equipment are currently being reassessed. Developments to improve patient care and treatment comprise novel glucocorticoid preparations that are closer to the physiological circadian cortisol profile, a uniform European emergency card and more standardized crisis prevention measures. PMID:27211797

  15. Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis

    PubMed Central

    Spurek, Monika; Taylor-Gjevre, Regina; Van Uum, Stan; Khandwala, Hasnain M.

    2004-01-01

    ADRENOMYELONEUROPATHY IS A VARIENT OF ADRENOLEUKODYSTROPHY, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction of these organs and systems. In this article, we describe an illustrative case of adrenomyeloneuropathy and discuss the clinical presentation, diagnosis and management of the 2 disorders. PMID:15505272

  16. Adrenal Insufficiency Therapy: How to Keep the Balance between Good Quality of Life and Low Risk for Long-Term Side Effects?

    PubMed

    Simunkova, Katerina; Husebye, Eystein S

    2016-01-01

    Glucocorticoid treatment in adrenal insufficiency remains a challenge since many patients complain of fatigue, reduced health-related quality of life and working ability. Moreover, there is a fear of increased mortality and morbidity related to adrenal crises and chronic overexposure to glucocorticoids. In order to counter these negative effects on daily life and future health, recent recommendations speak for lower replacement doses and administration forms that attempt to mimic the circadian variation in cortisol. At the same time, low replacement doses should not put the patient at an increased risk of an adrenal crisis. This chapter provides an overview of current state-of-the-art approaches to treatment and follow-up of adrenal insufficiency aimed at avoiding over- and undertreatment.

  17. Adrenal insufficiency as a result of long-term misuse of topical corticosteroids.

    PubMed

    Böckle, Barbara C; Jara, David; Nindl, Werner; Aberer, Werner; Sepp, Norbert T

    2014-01-01

    The treatment of chronic inflammatory skin disease is associated with the use of topical corticosteroids. Their efficacy, tolerability and adverse effects depend on several factors, specifically potency, type of preparation, extemporaneous dilutions, quantity used, magnitude of the treated body surface, frequency of application, location, patient age, method of application and condition of the skin barrier. We report on two men suffering from chronic inflammatory skin disease, who presented with fatigue and cushingoid appearance after prolonged self-application of potent corticosteroids. Impairment of the skin barrier due to their underlying skin disease, frequent self-application of topical steroids and repeated application of the entire body led to extensive absorption of these substances, eventually culminating in the suppression of the pituitary-hypothalamic-adrenal axis. In conclusion, topical corticosteroids are effective and well-established therapeutic modalities. However, inappropriate use of topical corticosteroids can cause side effects. PMID:24751677

  18. Cortisol-dependent stress effects on cell distribution in healthy individuals and individuals suffering from chronic adrenal insufficiency.

    PubMed

    Geiger, Ashley M; Pitts, Kenneth P; Feldkamp, Joachim; Kirschbaum, Clemens; Wolf, Jutta M

    2015-11-01

    Chronic adrenal insufficiency (CAI) is characterized by a lack of glucocorticoid and mineralocorticoid production due to destroyed adrenal cortex cells. However, elevated cortisol secretion is thought to be a central part in a well-orchestrated immune response to stress. This raises the question to what extent lack of cortisol in CAI affects stress-related changes in immune processes. To address this question, 28 CAI patients (20 females) and 18 healthy individuals (11 females) (age: 44.3 ± 8.4 years) were exposed to a psychosocial stress test (Trier Social Stress Test: TSST). Half the patients received a 0.03 mg/kg body weight injection of hydrocortisone (HC) post-TSST to mimic a healthy cortisol stress response. Catecholamines and immune cell composition were assessed in peripheral blood and free cortisol measured in saliva collected before and repeatedly after TSST. CAI patients showed norepinephrine (NE) stress responses similar to healthy participants, however, epinephrine (E) as well as cortisol levels were significantly lower. HC treatment post-TSST resulted in cortisol increases comparable to those observed in healthy participants (interaction effects--NE: F=1.05, p=.41; E: F=2.56, p=.045; cortisol: F=13.28, p<.001). Healthy individuals showed the expected pattern of stress-related early lymphocyte increase with subsequent decrease below baseline. The opposite pattern was observed in granulocytes. While exhibiting a similar initial increase, lymphocytes kept increasing over the following 2h in untreated patients. HC treatment buffered this effect (interaction effects--lymphocyte%: F=7.31, p<.001; granulocyte%: F=7.71, p<.001). Using CAI in humans as a model confirms cortisol's central involvement in post-stress lymphocyte migration from blood into immune-relevant body compartments. As such, future studies should investigate whether psychosocial stress exposure may put CAI patients at an increased health risk due to attenuated immune responses to pathogens.

  19. Modified-release prednisone decreases complaints and fatigue compared to standard prednisolone in patients with adrenal insufficiency.

    PubMed

    Langenheim, J; Ventz, M; Hinz, A; Quinkler, M

    2013-02-01

    Patients with adrenal insufficiency (AI) receive first glucocorticoid replacement dose after waking, resulting in a 3-5 h delay compared to physiological secretion. Impaired quality of life (QoL) and fatigue might be due to this delayed dose scheme. Modified-release glucocorticoid preparations might have therapeutic advantages. Exploratory pilot study including 14 patients with AI was conducted in a single university center. Patients on morning dose prednisolone (5 mg) were included, switched to modified-release prednisone (5 mg) at 10 PM for 3 months, and then switched back on standard prednisolone. 3 standardized questionnaires (GBB-24, MFI, and AddiQoL) investigating complaints and fatigue were completed at baseline, after 3, and 6 months. Data regarding clinical and hormonal parameters were assessed. Modified-release prednisone showed significant improvement in one of 4 scales of GBB-24 and positive trends to better scores in 3 of 4 scales. The global score of discomfort improved significantly. The MFI showed also significant improvement in 3 of 5 scales and positive trend to better scores in 2 scales. Significant changes to better scores were seen in 4 out of 30 items of the AddiQoL. Modified-release prednisone showed decreased complaints and fatigue compared to standard prednisolone indicating importance of glucocorticoid increase in early morning hours before waking. PMID:22752958

  20. Assessment of the effect of continuous sedation with mechanical ventilation on adrenal insufficiency in patients with traumatic brain injury.

    PubMed

    Li, Min; Zhang, Ying; Wu, Kang-Song; Hu, Ying-Hong

    2016-03-01

    The aim of this study was to assess the effect of continuous propofol sedation plus prolonged mechanical ventilation on adrenal insufficiency (AI) in patients with traumatic brain injury (TBI). Eighty-five adult patients diagnosed with moderate TBI (Glasgow Coma Scale (GCS) score 9-13) from October 2011 to October 2012 were included in this prospective study. The patients comprised three groups: no mechanical ventilation and sedation (n=27), mechanical ventilation alone (n=24) and mechanical ventilation plus sedation (n=34). The low-dose short Synacthen test was performed at 8:00 on the first, third, and fifth days after TBI. Logistic regression analysis was performed to identify factors affecting the use of mechanical ventilation and sedation, and the incidence of AI. On the fifth day after injury, the mean baseline cortisol and simulated cortisol levels were significantly lower in the mechanical ventilation plus sedation group compared with the other two groups. Multivariate regression analysis showed that the Acute Physiology and Chronic Health Evaluation (APACHE) score was independently associated with treatment with mechanical ventilation and sedation compared to mechanical ventilation alone. Furthermore, hypoxemia on admission and shock were associated with the development of AI. The findings showed that sedation is associated with an increased incidence of AI. Patients with TBI who are treated with continuous sedation should be monitored for AI carefully. PMID:26912007

  1. Patient With Severe Hyponatremia Caused by Adrenal Insufficiency Due to Ectopic Posterior Pituitary Lobe and Miscommunication Between Hypothalamus and Pituitary

    PubMed Central

    Grammatiki, Maria; Rapti, Eleni; Mousiolis, Athanasios C.; Yavropoulou, Maria; Karras, Spyridon; Tsona, Afroditi; Daniilidis, Michalis; Yovos, John; Kotsa, Kalliopi

    2016-01-01

    Abstract Hyponatremia may be one of the clinical manifestations of adrenal insufficiency (AI) and during the diagnostic workup of hyponatremic patients investigation of AI should be included. We report the case of an 82-year-old patient who was admitted to our hospital with clinical symptoms and laboratory findings of hyponatremia. Following the diagnostic algorithm of hyponatremia we reached the diagnosis of AI. Clinician's attention must focus on the underlying cause of AI which in this case was hidden in a miscommunication between hypothalamus and pituitary due to an ectopic posterior pituitary lobe and became apparent by a pituitary magnetic resonance imaging (MRI) scan. Treatment with oral hydrocortisone resulted in full clinical recovery and electrolyte balance, which was maintained after 7 months of follow-up. Secondary AI is related with hyponatremia through increased ADH secretion. Although a hyponatremic episode may be the first presentation of AI, clinical suspicion is of high importance in order to place the right diagnosis. Disruption of communication between hypothalamus and pituitary is a rare but considerable cause of AI. PMID:26962783

  2. Therapeutic innovations in endocrine diseases - Part 2: Modified-release glucocorticoid compounds: What good do they provide to the adrenal insufficient patient?

    PubMed

    Reznik, Yves

    2016-06-01

    Intensive researches on modified-release hydrocortisone compounds developed in the last decade have paved the way for obtaining near-physiological glucocorticoid replacement in the adrenal insufficient patient. The dual-release Duocort (Plenadren) allows a unique morning intake and closely mimics the circadian rhythm of cortisol secretion, except for the progressive nocturnal increase and the morning cortisol peak observed in healthy subjects. Duocort treatment during a 6-month period was associated with favorable changes in weight, blood pressure and glycemic control in patients with diabetes mellitus. Chronocort, a multiparticulate formulation with sustained-release properties replaces endogenous cortisol in a near-physiologic manner and fully restores the end of night cortisol peak. A twice-daily Chronocort regimen was effective in controlling androgen excess in adults with CAH. Recently, the new multiparticulate formulation Infacort was designed for the treatment of adrenal insufficiency during infancy. Long term effectiveness and safety studies are needed until these promising hydrocortisone formulations become routine therapeutic tools in adrenal insufficiency. PMID:27260966

  3. Managing Adrenal Insufficiency

    MedlinePlus

    ... vomiting, and diarrhea • Loss of appetite • Upset stomach • Joint aches and pains Other symptoms you may experience ... This medication is often referred to as your replacement dose. Many medications can replace cortisol; they are ...

  4. Adrenal Insufficiency (Addison's Disease)

    MedlinePlus

    ... the Licensed Materials from any location via the Internet. b. STANDALONE WORKSTATION: A standalone subscription permits multiple ... computer. A Standalone Workstation license does not include Internet access to the Licensed Materials. c. INSTITUTIONAL SUBSCRIPTION: ...

  5. Achalasia: current treatment options.

    PubMed

    Familiari, Pietro; Greco, Santi; Volkanovska, Ance; Gigante, Giovanni; Cali, Anna; Boškoski, Ivo; Costamagna, Guido

    2015-01-01

    Achalasia is a rare esophageal motility disorder, characterized by impaired swallow-induced, lower esophageal sphincter (LES) relaxation and defective esophageal peristalsis. Unfortunately, there are no etiological therapies for achalasia. Patients present with dysphagia, chest pain and regurgitation of undigested food, often leading to weight loss. The currently available treatments have the common aim of relieving symptoms by decreasing the pressure of the LES. This can be achieved with some medications, by inhibiting the cholinergic innervation (botulinum toxin), by stretching (endoscopic dilation) or cutting (surgery) the LES. Recently, other therapeutic options, including per-oral endoscopic myotomy have been developed and are gaining international consensus. The authors report on the benefits and weaknesses of the different therapies and provide an updated approach to the management of achalasia. PMID:26186641

  6. First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.

    PubMed

    Pomahačová, Renata; Sýkora, Josef; Zamboryová, Jana; Paterová, Petra; Varvařovská, Jana; Šubrt, Ivan; Dort, Jiří; Dortová, Eva

    2016-06-01

    We characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. The patient presented after birth with cardiopulmonary instability, hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. We confirmed primary adrenal insufficiency. There were no signs of the external genitalia virilism. The replacement therapy with glucocorticoids and mineralocorticoids led to normal laboratory results. At the age of 12 years, we confirmed hypergonadotropic hypogonadism, which revealed disorder of steroidogenesis in the adrenal glands and in the gonads. The enzymatic block was found at the beginning of steroidogenesis. The mutation was confirmed in the CYP11A1 gene. The patient is compound heterozygote for the novel CYP11A1 missense mutation c.412G>A (p.Gly138Arg) in exon 2 and frameshift mutation c.508_509delCT (p.Leu170Valfs*30) in exon 3. The CYP11A1: c.412G>A (p.Gly138Arg) was predicted as pathogenic by in silico analysis. So far, only 19 patients with CYP11A1 mutations causing P450scc deficiency have been reported worldwide. There are no related reports in the Czech Republic.

  7. Diagnostic Accuracy of Perioperative Measurement of Basal Anterior Pituitary and Target Gland Hormones in Predicting Adrenal Insufficiency After Pituitary Surgery.

    PubMed

    Cerina, Vatroslav; Kruljac, Ivan; Radosevic, Jelena Marinkovic; Kirigin, Lora Stanka; Stipic, Darko; Pecina, Hrvoje Ivan; Vrkljan, Milan

    2016-03-01

    The insulin tolerance test (ITT) is the gold standard for diagnosing adrenal insufficiency (AI) after pituitary surgery. The ITT is unpleasant for patients, requires close medical supervision and is contraindicated in several comorbidities. The aim of this study was to analyze whether tumor size, remission rate, preoperative, and early postoperative baseline hormone concentrations could serve as predictors of AI in order to increase the diagnostic accuracy of morning serum cortisol. This prospective study enrolled 70 consecutive patients with newly diagnosed pituitary adenomas. Thirty-seven patients had nonfunctioning pituitary adenomas (NPA), 28 had prolactinomas and 5 had somatotropinomas. Thyroxin (T4), thyrotropin (TSH), prolactin, follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and insulin-like growth factor 1 (IGF-I) were measured preoperatively and on the sixth postoperative day. Serum morning cortisol was measured on the third postoperative day (CORT3) as well as the sixth postoperative day (CORT6). Tumor mass was measured preoperatively and remission was assessed 3 months after surgery. An ITT was performed 3 to 6 months postoperatively. Remission was achieved in 48% of patients and AI occurred in 51%. Remission rates and tumor type were not associated with AI. CORT3 had the best predictive value for AI (area under the curve (AUC) 0.868, sensitivity 82.4%, specificity 83.3%). Tumor size, preoperative T4, postoperative T4, and TSH were also associated with AI in a multivariate regression model. A combination of all preoperative and postoperative variables (excluding serum cortisol) had a sensitivity of 75.0% and specificity of 77.8%. The predictive power of CORT3 substantially improved by adding those variables into the model (AUC 0.921, sensitivity 94.1%, specificity 78.3%, PPV 81.9%, NPV of 92.7%). In a subgroup analysis that included only female patients with NPA, LH had exactly the same predictive value as CORT3. The addition

  8. Diagnostic Accuracy of Perioperative Measurement of Basal Anterior Pituitary and Target Gland Hormones in Predicting Adrenal Insufficiency After Pituitary Surgery

    PubMed Central

    Cerina, Vatroslav; Kruljac, Ivan; Radosevic, Jelena Marinkovic; Kirigin, Lora Stanka; Stipic, Darko; Pecina, Hrvoje Ivan; Vrkljan, Milan

    2016-01-01

    Abstract The insulin tolerance test (ITT) is the gold standard for diagnosing adrenal insufficiency (AI) after pituitary surgery. The ITT is unpleasant for patients, requires close medical supervision and is contraindicated in several comorbidities. The aim of this study was to analyze whether tumor size, remission rate, preoperative, and early postoperative baseline hormone concentrations could serve as predictors of AI in order to increase the diagnostic accuracy of morning serum cortisol. This prospective study enrolled 70 consecutive patients with newly diagnosed pituitary adenomas. Thirty-seven patients had nonfunctioning pituitary adenomas (NPA), 28 had prolactinomas and 5 had somatotropinomas. Thyroxin (T4), thyrotropin (TSH), prolactin, follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and insulin-like growth factor 1 (IGF-I) were measured preoperatively and on the sixth postoperative day. Serum morning cortisol was measured on the third postoperative day (CORT3) as well as the sixth postoperative day (CORT6). Tumor mass was measured preoperatively and remission was assessed 3 months after surgery. An ITT was performed 3 to 6 months postoperatively. Remission was achieved in 48% of patients and AI occurred in 51%. Remission rates and tumor type were not associated with AI. CORT3 had the best predictive value for AI (area under the curve (AUC) 0.868, sensitivity 82.4%, specificity 83.3%). Tumor size, preoperative T4, postoperative T4, and TSH were also associated with AI in a multivariate regression model. A combination of all preoperative and postoperative variables (excluding serum cortisol) had a sensitivity of 75.0% and specificity of 77.8%. The predictive power of CORT3 substantially improved by adding those variables into the model (AUC 0.921, sensitivity 94.1%, specificity 78.3%, PPV 81.9%, NPV of 92.7%). In a subgroup analysis that included only female patients with NPA, LH had exactly the same predictive value as CORT3. The

  9. Acute mental status change as the presenting feature of adrenal insufficiency in a patient with autoimmune polyglandular syndrome type II and stroke

    PubMed Central

    Watson, Sara; Raj, Shekar; Eugster, Erica; Sanchez, Juan

    2014-01-01

    Primary adrenal insufficiency (AI) in children usually presents with non-specific symptoms such as fatigue, nausea, vomiting, and anorexia. Here, we report an unusual case of a 15 year old girl who presented with acute mental status change and was ultimately diagnosed with AI due to autoimmune polyglandular syndrome type II (APS2). Central nervous system imaging revealed a cerebral infarction. To our knowledge, the constellation of APS2, stroke and acute mental status change has not been previously reported. We review the literature with regard to the presentation of AI as well as the association between vasculitis and APS2. PMID:24259239

  10. Achalasia in father and son.

    PubMed

    Mackler, D; Schneider, R

    1978-11-01

    Achalasia has not been previously reported in father and son. A man, age 38, and his father, age 66, presented two years apart with symptoms of dysphagia and aspiration. The diagnosis of achalasia was made on the basis of x-ray and endoscopic findings and on esophageal motility studies performed on the father. Both responded well to pneumatic dilatation and have been asymptomatic for 24 months and 6 months, respectively. These cases again suggest a genetic basis for achalasia.

  11. Disorders of adrenal development.

    PubMed

    Ferraz-de-Souza, Bruno; Achermann, John C

    2008-01-01

    Human adrenal development is a complex and relatively poorly understood process. However, significant insight into some of the mechanisms regulating adrenal development and function is being obtained through the analysis of individuals and families with adrenal hypoplasia. Adrenal hypoplasia can occur: (1) secondary to defects in pituitary adrenocorticotropin (ACTH) synthesis, processing and release (secondary adrenal hypoplasia; e.g. HESX1, LHX4, SOX3, TPIT, pituitary POMC, PC1); (2) as part of several ACTH resistance syndromes (e.g. MC2R/ACTHR, MRAP, Alacrima, Achalasia, Addison disease), or as (3) a primary defect in the development of the adrenal gland itself (primary adrenal hypoplasia; e.g. DAX1/NR0B1 - dosage-sensitive sex reversal, adrenal hypoplasia congenita critical region on the X chromosome 1). Indeed, the X-linked form of primary adrenal hypoplasia due to deletions or mutations in the orphan nuclear receptor DAX1 occurs in around half of male infants presenting with a salt-losing adrenal crisis, where no obvious steroidogenic defect (e.g. 21-hydroxylase deficiency), metabolic abnormality (e.g. neonatal adrenoleukodystrophy) or physical cause (e.g. adrenal haemorrhage) is found. Establishing the underlying basis of adrenal failure can have important implications for investigating associated features, the likely long-term approach to treatment, and for counselling families about the risk of other children being affected.

  12. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    MedlinePlus

    ... glands on top of each kidney called the adrenal glands . These glands produce a variety of hormones that ... disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically ...

  13. Achalasia in siblings. Clinical and genetic aspects.

    PubMed

    Bosher, L P; Shaw, A

    1981-08-01

    Achalasia is rare in children; less than 2% of all patients with achalasia are less than 6 years old. Familial achalasia is extraordinarily rare, for an exhaustive search of the world literature yielded only 31 cases. Two additional cases are reported here. Based on an analysis of the reported cases in the literature coupled with our two cases, we have observed that familial achalasia is likely transmitted as an autosomal recessive trait. We recommend that all siblings of children with confirmed achalasia should either be studied by contrast roentgenography or be monitored closely for clinical signs of achalasia, especially if they are products of consanguineous parents.

  14. Medical Treatment for Acromegaly does not Increase the Risk of Central Adrenal Insufficiency: A Long-Term Follow-Up Study.

    PubMed

    Ceccato, F; Lizzul, L; Zilio, M; Barbot, M; Denaro, L; Emanuelli, E; Alessio, L; Rolma, G; Manara, R; Saller, A; Boscaro, M; Scaroni, C

    2016-08-01

    Central adrenal insufficiency (CAI) in acromegaly may be related to pituitary adenoma or induced by various medical treatments, transsphenoidal neurosurgery (TNS) or radiotherapy (RT), alone or combined. We assessed the role of all available treatments for acromegaly in inducing CAI. We retrospectively studied 97 patients. CAI was diagnosed if morning serum cortisol was <138 nmol/l, or if its response was inadequate in the low-dose short synacthen test. Seventy-four subjects underwent TNS (and 17 of whom also underwent RT), and 23 were on primary medical therapy: overall we diagnosed 21 cases of CAI. Duration of acromegaly, invasion of cavernous sinus, disease control, and type of medical treatment were much the same for patients with and without CAI, which was identified in 18% of patients (10/57) after one TNS, and in 53% (9/17) after RT (p=0.01); repeat surgery increased the risk of CAI (p=0.02). The risk of CAI onset during the follow-up was lower among patients treated with TNS or medical therapy than after RT (p=0.035). Medical treatment did not raise the risk of CAI, whereas a 5- and 4-fold higher risk of CAI was associated with repeat TNS and RT, respectively. Basal or stimulated cortisol levels were similar among acromegalic patients without CAI and matched controls with nonsecreting pituitary lesions. A significant proportion of patients with acromegaly developed CAI over time. While primary or secondary medical treatment did not contribute to the risk of CAI, repeat TNS and RT correlated with pituitary-adrenal axis impairment. PMID:27246620

  15. Barrett's Oesophagus in an Achalasia Patient: Immunological Analysis and Comparison with a Group of Achalasia Patients

    PubMed Central

    Torres-Landa, Samuel; Coss-Adame, Enrique; Valdovinos, Miguel A.; Alejandro-Medrano, Edgar; Ramos-Ávalos, Bárbara; Martínez-Benítez, Braulio

    2016-01-01

    The aim of the study was to characterize the presence of diverse CD4 and CD8 T cell subsets and regulatory cells in peripheral blood and lower oesophageal sphincter (LES) from a young patient with BE/achalasia without treatment versus achalasia group. In order to characterize the circulating cells in this patient, a cytometric analysis was performed. LES tissue was evaluated by double-immunostaining procedure. Five healthy blood donors, 5 type achalasia patients, and 5 oesophagus tissue samples (gastrooesophageal junction) from transplant donors were included as control groups. A conspicuous systemic inflammation was determined in BE/achalasia patient and achalasia versus healthy volunteer group. Nonetheless, a predominance of Th22, Th2, IFN-α-producing T cells, Tregs, Bregs, and pDCregs was observed in BE/achalasia patient versus achalasia group. A low percentage of Th1 subset in BE/achalasia versus achalasia group was determined. A noticeable increase in tissue of Th22, Th17, Th2, Tregs, Bregs, and pDCregs was observed in BE/achalasia versus achalasia group. Th1 subset was lower in the BE/achalasia patient versus achalasia group. This study suggests that inflammation is a possible factor in the pathogenesis of BE/achalasia. Further research needs to be performed to understand the specific cause of the correlation between BE and achalasia. PMID:27752370

  16. The ICET-A Survey on Current Criteria Used by Clinicians for the Assessment of Central Adrenal Insufficiency in Thalassemia: Analysis of Results and Recommendations

    PubMed Central

    De Sanctis, Vincenzo; Soliman, Ashraf T.; Elsedfy, Heba; Albu, Alice; Al Jaouni, Soad; Yaarubi, Saif AL; Anastasi, Salvatore; Canatan, Duran; Di Maio, Massimo; Di Maio, Salvatore; El Kholy, Mohamed; Karimi, Mehran; Khater, Doaa; Kilinc, Yurdanur; Lum, Su Han; Skordis, Nicos; Sobti, Praveen; Stoeva, Iva; Tzoulis, Ploutarchos; Wali, Yasser; Kattamis, Christos

    2016-01-01

    Background In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) implemented a two-step survey on central adrenal insufficiency (CAI) assessment in TM patients and after analysis of the collected data, recommendations for the assessment of hypothalamic-pituitary- adrenal (HPA) axis in clinical practice were defined. Methods To ascertain the current practice for assessment of CAI in thalassemia, the Coordinator of ICET-A sent two questionnaires by email: i) The first to evaluate the current interpretation of basal serum cortisol level (first step) and ii) The second to assess the current usage of ACTH test and the variability in practice” (second step). Based on the surveys the core ICET-A group prepared the recommendations for the assessment of suspected CAI in thalassemia (third step). Results A total of 19 thalassemologists/endocrinologists have participated in the first survey and 35 specialists participated in the second step questionnaire. The study demonstrated a considerable variability in almost all aspects of relevant current criteria used for the diagnosis of CAI. An ROC analysis using peak value > 20 μg/dl (> 550 nmol/L), after ACTH stimulation test, was performed with the aim of identifying the optimal basal serum cortisol cut-off. The optimal threshold that maximizes sensitivity plus specificity for morning basal cortisol against peak post-ACTH value >20 μg/dl (>550 nmol/L) was 10 μg/dl (275 nmol/L). Furthermore, the values associated with the highest negative predictive value (NPV) and highest, positive predictive value (PPV) were 4.20 (115 nmol/L) and 18.45 μg/dl (510 nmol/L), respectively. Surprisingly, 20 specialists in thalassemia working in blood bank, thalassemia centres (day hospital), internal medicine, hematology and onco-hematology had poor knowledge and experience in testing for CAI and stopped filling the questionnaire after the second question. In contrast, 9

  17. Endoscopic approach to achalasia

    PubMed Central

    Müller, Michaela; Eckardt, Alexander J; Wehrmann, Till

    2013-01-01

    Achalasia is a primary esophageal motor disorder. The etiology is still unknown and therefore all treatment options are strictly palliative with the intention to weaken the lower esophageal sphincter (LES). Current established endoscopic therapeutic options include pneumatic dilation (PD) or botulinum toxin injection. Both treatment approaches have an excellent symptomatic short term effect, and lead to a reduction of LES pressure. However, the long term success of botulinum toxin (BT) injection is poor with symptom recurrence in more than 50% of the patients after 12 mo and in nearly 100% of the patients after 24 mo, which commonly requires repeat injections. In contrast, after a single PD 40%-60% of the patients remain asymptomatic for ≥ 10 years. Repeated on demand PD might become necessary and long term remission can be achieved with this approach in up to 90% of these patients. The main positive predictors for a symptomatic response to PD are an age > 40 years, a LES-pressure reduction to < 15 mmHg and/or an improved radiological esophageal clearance post-PD. However PD has a significant risk for esophageal perforation, which occurs in about 2%-3% of cases. In randomized, controlled studies BT injection was inferior to PD and surgical cardiomyotomy, whereas the efficacy of PD, in patients > 40 years, was nearly equivalent to surgery. A new promising technique might be peroral endoscopic myotomy, although long term results are needed and practicability as well as safety issues must be considered. Treatment with a temporary self expanding stent has been reported with favorable outcomes, but the data are all from one study group and must be confirmed by others before definite recommendations can be made. In addition to its use as a therapeutic tool, endoscopy also plays an important role in the diagnosis and surveillance of patients with achalasia. PMID:23951393

  18. Endoscopic treatment of esophageal achalasia

    PubMed Central

    Esposito, Dario; Maione, Francesco; D’Alessandro, Alessandra; Sarnelli, Giovanni; De Palma, Giovanni D

    2016-01-01

    Achalasia is a motility disorder of the esophagus characterized by dysphagia, regurgitation of undigested food, chest pain, weight loss and respiratory symptoms. The most common form of achalasia is the idiopathic one. Diagnosis largely relies upon endoscopy, barium swallow study, and high resolution esophageal manometry (HRM). Barium swallow and manometry after treatment are also good predictors of success of treatment as it is the residue symptomatology. Short term improvement in the symptomatology of achalasia can be achieved with medical therapy with calcium channel blockers or endoscopic botulin toxin injection. Even though few patients can be cured with only one treatment and repeat procedure might be needed, long term relief from dysphagia can be obtained in about 90% of cases with either surgical interventions such as laparoscopic Heller myotomy or with endoscopic techniques such pneumatic dilatation or, more recently, with per-oral endoscopic myotomy. Age, sex, and manometric type by HRM are also predictors of responsiveness to treatment. Older patients, females and type II achalasia are better after treatment compared to younger patients, males and type III achalasia. Self-expandable metallic stents are an alternative in patients non responding to conventional therapies. PMID:26839644

  19. Achalasia mimicking prepubertal anorexia nervosa.

    PubMed

    Richterich, Andreas; Brunner, Romuald; Resch, Franz

    2003-04-01

    A 9-year-old girl presents for continuing weight loss of 10 kg over the course of 1 year. Medical history showed three episodes of pneumonia requiring hospital admission in the 6 months before presentation and 4 months of weekly psychotherapy for anorexia nervosa. A thorough history of eating behavior and a review of systems revealed not only typical aspects of prepubertal anorexia nervosa but also vomiting at night while asleep, difficulty drinking liquids, epigastric pain, and a frequent experience of "a lump in the throat"; these symptoms were not suggestive of a diagnosis of anorexia nervosa but rather of esophageal achalasia. The patient was transferred to the Department of Pediatrics, and a diagnosis of esophageal achalasia was made by chest x-ray and barium swallow. After dilatation and botulinum toxin application, the patient regained weight easily and was discharged in stable condition. In this case, esophageal achalasia mimicked prepubertal anorexia nervosa.

  20. Cardiac achalasia in childhood

    PubMed Central

    Singh, Harjit; Sethi, R. S.; Gupta, H. L.; Khetarpal, S. K.

    1969-01-01

    Cardiac achalasia is a disorder not unknown in the paediatric age-group and may occur even in the neonatal period. This disorder should, therefore, be considered in all cases presenting with persistent vomiting, as well as in those with chronic respiratory disease in whom more common causes have been excluded. It is almost universally accepted that the disorder results from a disturbed function of ganglion cells in the distal oesophagus, as the disease has been reproduced in laboratory animals by denervation of the distal oesophagus. The exact pathogenesis of this degenerative change is not well understood. However, in at least some of the cases congenital absence of the ganglion cells may be responsible for this functional disturbance. This is inferred from the fact that the disease may be found in association with Hirschsprung disease, in which there is a congenital absence of ganglion cells in the terminal colon. Moreover, the occurrence of the disease in the neonatal period itself favours a congenital lesion. Surgery was preferred to other forms of treatment in the paediatric age-group in view of the reported equivocal response to mechanical dilatation and pre-disposition of children to respiratory complications. The results of surgery were satisfactory. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8 PMID:5790932

  1. Quality of life in patients with adrenal insufficiency correlates stronger with hydrocortisone dosage, than with long-term systemic cortisol levels.

    PubMed

    Andela, Cornelie D; Staufenbiel, Sabine M; Joustra, Sjoerd D; Pereira, Alberto M; van Rossum, Elisabeth F C; Biermasz, Nienke R

    2016-10-01

    In patients with adrenal insufficiency (AI) a higher hydrocortisone intake has been associated with more impairment in quality of life (QoL). Irrespective of age, sex and severity of AI the dosage of hydrocortisone is titrated around 20mg/D in all patients with AI based on physical and mental signs and symptoms. However, until now it is unknown whether these QoL impairments are related to increased systemic cortisol exposure. Measurement of hair cortisol levels (CORThair) can be used to assess chronic systemic cortisol exposure. This study aimed to explore whether QoL in patients with AI is associated with CORThair and daily hydrocortisone intake. We performed a cross-sectional study in 120 patients with AI on stable hydrocortisone replacement, in whom hair samples and QoL data were collected. CORThair were measured with ELISA, and QoL was assessed with validated questionnaires (SF-36, EQ-5D, HADS, MFI-20). Patients reported impairments in 14 of 15 QoL subscales (p<0.001). More impairments in physical aspects of QoL correlated with higher CORThair and higher daily hydrocortisone intake (p<0.05), an effect that was more pronounced in female patients. Regression analyses including both CORThair and hydrocortisone intake revealed a significant negative contribution of higher hydrocortisone intake on physical aspects of QoL (p≤0.046), whereas no significant contribution was found for CORThair. The present study showed that patients with AI report several impairments in QoL which are associated with hydrocortisone intake, and to a lesser extent reflected by chronic systemic cortisol exposure as measured by hair cortisol. This suggests that QoL impairments in patients with AI are not per se the effect of prolonged exposure to elevated systemic cortisol levels. PMID:27388687

  2. Quality of life in patients with adrenal insufficiency correlates stronger with hydrocortisone dosage, than with long-term systemic cortisol levels.

    PubMed

    Andela, Cornelie D; Staufenbiel, Sabine M; Joustra, Sjoerd D; Pereira, Alberto M; van Rossum, Elisabeth F C; Biermasz, Nienke R

    2016-10-01

    In patients with adrenal insufficiency (AI) a higher hydrocortisone intake has been associated with more impairment in quality of life (QoL). Irrespective of age, sex and severity of AI the dosage of hydrocortisone is titrated around 20mg/D in all patients with AI based on physical and mental signs and symptoms. However, until now it is unknown whether these QoL impairments are related to increased systemic cortisol exposure. Measurement of hair cortisol levels (CORThair) can be used to assess chronic systemic cortisol exposure. This study aimed to explore whether QoL in patients with AI is associated with CORThair and daily hydrocortisone intake. We performed a cross-sectional study in 120 patients with AI on stable hydrocortisone replacement, in whom hair samples and QoL data were collected. CORThair were measured with ELISA, and QoL was assessed with validated questionnaires (SF-36, EQ-5D, HADS, MFI-20). Patients reported impairments in 14 of 15 QoL subscales (p<0.001). More impairments in physical aspects of QoL correlated with higher CORThair and higher daily hydrocortisone intake (p<0.05), an effect that was more pronounced in female patients. Regression analyses including both CORThair and hydrocortisone intake revealed a significant negative contribution of higher hydrocortisone intake on physical aspects of QoL (p≤0.046), whereas no significant contribution was found for CORThair. The present study showed that patients with AI report several impairments in QoL which are associated with hydrocortisone intake, and to a lesser extent reflected by chronic systemic cortisol exposure as measured by hair cortisol. This suggests that QoL impairments in patients with AI are not per se the effect of prolonged exposure to elevated systemic cortisol levels.

  3. CT demonstration of bilateral adrenal hemorrhage

    SciTech Connect

    Ling, D.; Korobkin, M.; Silverman, P.M.; Dunnick, N.R.

    1983-08-01

    Bilateral adrenal hemorrhage with subsequent adrenal insufficiency is a recognized complication of anticoagulant therapy. Because the clinical manifestations are often nonspecific, the antemortem diagnosis of adrenal hemorrhage has been a difficult clinical problem. Computed tomography (CT) provides detailed images of the adrenal glands that are not possible with conventional imaging methods. The CT findings of bilateral adrenal hemorrhage in an anticoagulated patient are reported.

  4. Adrenal Insufficiency and Addison's Disease

    MedlinePlus

    ... Griffin Rodgers, Director of the NIDDK Clinical Trials Current research studies and how you can volunteer Community Outreach and Health Fairs Science-based information and tips for planning an outreach effort or community event For Health Care Professionals Patient and provider resources ...

  5. Minimally invasive surgery for esophageal achalasia

    PubMed Central

    Chen, Huan-Wen

    2016-01-01

    Esophageal achalasia is due to the esophagus of neuromuscular dysfunction caused by esophageal functional disease. Its main feature is the lack of esophageal peristalsis, the lower esophageal sphincter pressure and to reduce the swallow’s relaxation response. Lower esophageal muscular dissection is one of the main ways to treat esophageal achalasia. At present, the period of muscular layer under the thoracoscope esophagus dissection is one of the treatment of esophageal achalasia. Combined with our experience in minimally invasive esophageal surgery, to improved incision and operation procedure, and adopts the model of the complete period of muscular layer under the thoracoscope esophagus dissection in the treatment of esophageal achalasia. PMID:27499977

  6. Primary bilateral adrenal non-Hodgkin's lymphoma associated with normal adrenal function.

    PubMed

    Gu, Bin; Ding, Qiang; Xia, Guowei; Fang, Zujun; Fang, Jie; Jiang, Haowen; Yao, Mengshu

    2009-04-01

    Primary bilateral adrenal non-Hodgkin's lymphoma is rare. Adrenal insufficiency or adrenal failure as a result of tumor destruction is the main pathophysiological change of most cases. Normal adrenal function despite bulky bilateral adrenal masses is extremely rare. We present a case of primary bilateral adrenal non-Hodgkin's lymphoma associated with normal adrenal function. Positron emission tomography-computed tomography is helpful to the diagnosis.

  7. Pneumatic dilatation for childhood achalasia.

    PubMed

    Babu, R; Grier, D; Cusick, E; Spicer, R D

    2001-09-01

    Treatment of achalasia by pneumatic balloon dilatation (PBD) is well established in adults. Due to limited experience and the rarity of the condition in children, there are relatively few reports in the paediatric literature. Although PBD has been reported as a primary method of treatment, there are no reports of secondary PBD for childhood achalasia. Between 1995 and 1999, five patients underwent treatment for achalasia (age: 9-14 years, M:F = 4:1). The presenting symptoms were dysphagia (5). vomiting episodes (2), aspiration (1), food-bolus obstruction (1), and failure to thrive (1). In all patients a barium swallow and manometry were used to confirm the diagnosis. Three underwent primary PBD. Two who had previously undergone surgical myotomy underwent secondary PBD for recurrence of symptoms. Dilatation was performed using a 35-mm balloon with the child under general anaesthesia. Technical success was defined as demonstration of a waist under screening at lower pressures followed by abolition of the waist at higher pressures. In addition to reviewing our results, a systematic review of the literature was performed (Medline, Cochrane Library, Pubmed, Embase). Three patients (primary dilatation) showed excellent improvement after a single dilatation. In two cases (secondary dilatation) three and five attempts were required. No complications were encountered. The mean follow-up period was 2 years (1-3.5 years) and four patients remained asymptomatic, an overall success rate of 80%. The literature review revealed similar good results in most of the recent reports. Thus, PBD as a primary treatment for childhood achalasia has a success rate of 70%-90% with minimal side effects, short hospital stay, and good patient acceptability over an operation. We have also established the usefulness of this method as a secondary treatment when symptoms recur after surgery.

  8. [Laparoscopic surgery for esophageal achalasia].

    PubMed

    Ozawa, S; Ando, N; Ohgami, M; Kitagawa, Y; Kitajima, M

    2000-04-01

    Laparoscopic surgery for esophageal achalasia was first reported by Shimi et al. in 1991. Subsequently the procedure has been performed all over the world and laparoscopic Heller myotomy and Dor fundoplication (Heller and Dor operation) is now thought to be the operation of first choice. It is indicated for patients who are resistant to medical therapy (calcium blocker etc.) or have pneumatic dilatation and those with frequent aspiration at night. As Csendes et al. reported that surgical treatment was better than pneumatic dilatation and as laparoscopic surgery is less invasive, the indications for the laparoscopic Heller and Dor operation can include all achalasia patients except those who respond to medical therapy, do not accept surgery, or cannot tolerate surgery. We successfully performed the laparoscopic Heller and Dor operation on 22 patients, all of whom had an uneventful postoperative course. Manometric evaluation, endoscopic examination, and 24-hour pH monitoring showed good results. There are six important technical points: 1) flexible laparoscopy; 2) pneumoperitoneum; 3) gauze in the abdominal cavity to absorb blood; 4) laparosonic coagulating shears; 5) extracorporeal knot-tying technique; and 6) intracorporeal knot-tying technique. If an experienced surgeon is in charge, the laparoscopic Heller and Dor operation is an ideal, minimally invasive treatment for esophageal achalasia.

  9. Achalasia cardia in a premature infant.

    PubMed

    Shettihalli, Naveen; Venugopalan, Vikranth; Ives, Nicholas Kevin; Lakhoo, Kokila

    2010-11-05

    Achalasia cardia is defined as a neuromuscular disorder of the oesophagus with abnormal motility and failure of relaxation of the distal oesophagus. It is an uncommon but well-recognised entity in infants and children. However, achalasia in a preterm baby has not been previously described. We report the condition in a premature infant with unusual presentation, treated successfully with Heller's oesophagomyotomy and fundoplication.

  10. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  11. Update in achalasia: what the surgeon needs to know.

    PubMed

    Hamer, Peter W; Holloway, Richard H; Crosthwaite, Gary; Devitt, Peter G; Thompson, Sarah K

    2016-07-01

    Achalasia is a motility disorder encountered by surgeons during the investigation and treatment of dysphagia. Recent advances in manometry technology, a widely accepted new classification system and a new treatment rapidly gaining international acceptance, have changed the working knowledge required to successfully manage patients with achalasia. We review the Chicago classification subtypes of achalasia with type II achalasia being a predictor of success and type III achalasia a predictor of treatment failure. We review per-oral endoscopic myotomy as an emerging treatment option and its potential for improving the treatment of type III achalasia. PMID:26992650

  12. Recent trends in the management of achalasia.

    PubMed

    Katada, Natsuya; Sakuramoto, Shinichi; Yamashita, Keishi; Shibata, Tomotaka; Moriya, Hiromitsu; Kikuchi, Shiro; Watanabe, Masahiko

    2012-01-01

    Radical treatment for achalasia is currently unavailable. At present, most palliative procedures are designed improve the passage of food through the gastroesophageal junction and thereby alleviate symptoms. Drug therapy is of limited, transient effectiveness. Pneumatic dilation (PD) is considered superior to endoscopic botulinum toxin injection (EBTI). The mainstay of surgical treatment for achalasia is laparoscopic Heller myotomy (LHM) with fundoplication, currently considered superior to PD. Per oral endoscopic myotomy (POEM), a "state-of-the-art" procedure for minimally invasive surgery, holds great promise for the future management of achalasia. Definitive conclusions regarding the benefits and risks of currently available treatments for achalasia must await the accumulation of evidence from well-designed clinical trials. PMID:23099422

  13. AB073. Mutations in the type II 3β-hydroxysteroid dehydrogenase gene caused primary adrenal insufficiency & 46,XY disorders of sex development

    PubMed Central

    Dung, Vu Chi; Thao, Bui Phuong; Khanh, Nguyen Ngoc; Ngoc, Can Thi Bich; Morel, Yves

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It includes a group of autosomal recessive disorders caused by the deficiency of one of the enzymes involved in one of the various steps of adrenal steroid synthesis. 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of CAH caused by inactivating mutations in the HSD3B2 gene. Most mutations are located within domains regarded crucial for enzyme function. Our aim is to describe phenotype and to identify mutations of HSD3B2 in two classic β-HSD deficient patients belonging to two apparently unrelated pedigrees. This is a case series study. Family history and clinical manifestations were described. Genomic DNA from these patients was extracted using standard procedures from the peripheral blood leukocytes. Mutation analysis of HSD3B2 was performed using polymerase chain reaction (PCR) and DNA direct sequencing. Vietnamese 46,XY newborn referred at 2.5th month of life with salt loss associated with hyponatremia (123 nmol/L) and hyperpigmentation. The testes were palpable in the scrotum but associated with a severe hypospadias (micropenis 0.5 cm; posterior). At 4 months of age, a second adrenal crisis has occurred with hyponatremia 127 nmol/L and increased 17OH-Progesterone (26.8 ng/mL) in this 46,XY DSD. This clinical and biological data associated with a sibling with female phenotype deceased at 18 months old after adrenal crisis (1st occurred at 7 days of life) suggest the diagnosis of 3β-HSD deficiency. The sequencing of HSD3B2 confirms the diagnosis because he is homozygous for a missense mutation, pAla161Pro. This mutation affects an amino acid conserved in all species and is located in one two alpha-helix involved in the dimerization of the two sub-units of the enzyme. The changing from Alanine to proline could break the alpha-helix. The same mutation has been found in the other Vietnamese family. The 46,XY newborn referred at 3th month of life with

  14. Adrenal involvement in non-Hodgkin lymphoma

    SciTech Connect

    Paling, M.R.; Williamson, B.R.J.

    1983-08-01

    Adrenal masses are described in seven cases of non-Hodgkin lymphoma in a series of 173 patients. In all seven patients the lymphoma was diffuse rather than nodular. Three patients had adrenal masses at the time of presentation, whereas in four cases the adrenal gland was a site of tumor recurrence after therapy. Three patients had simultaneous bilateral adrenal involvement by tumor. No characteristic features were recognized that might have distinguished these tumors from other adrenal masses. Appropriate therapy successfully resolved the adrenal masses in all but one case. The latter patient was the only one with evidence of adrenal insufficiency.

  15. Surgical Treatment for Achalasia of the Esophagus: Laparoscopic Heller Myotomy

    PubMed Central

    Torres-Villalobos, Gonzalo; Martin-del-Campo, Luis Alfonso

    2013-01-01

    Achalasia is an esophageal motility disorder that leads to dysphagia, chest pain, and weight loss. Its diagnosis is clinically suspected and is confirmed with esophageal manometry. Although pneumatic dilation has a role in the treatment of patients with achalasia, laparoscopic Heller myotomy is considered by many experts as the best treatment modality for most patients with newly diagnosed achalasia. This review will focus on the surgical treatment of achalasia, with special emphasis on laparoscopic Heller myotomy. We will also present a brief discussion of the evaluation of patients with persistent or recurrent symptoms after surgical treatment for achalasia and emerging technologies such as LESS, robot-assisted myotomy, and POEM. PMID:24348542

  16. Recent trends in endoscopic management of achalasia

    PubMed Central

    Tolone, Salvatore; Limongelli, Paolo; del Genio, Gianmattia; Brusciano, Luigi; Russo, Antonio; Cipriano, Lorenzo; Terribile, Marco; Docimo, Giovanni; Ruggiero, Roberto; Docimo, Ludovico

    2014-01-01

    Esophageal achalasia is a chronic and progressive motility disorder characterized by absence of esophageal body peristalsis associated with an impaired relaxation of lower esophageal sphincter (LES) and usually with an elevated LES pressure, leading to an altered passage of bolus through the esophago-gastric junction. A definitive cure for achalasia is currently unavailable. Palliative treatment options provide only food and liquid bolus intake and relief of symptoms. Endoscopic therapy for achalasia aims to disrupt or weaken the lower esophageal sphincter. Intra-sphincteric injection of botulinum toxin is reserved for elderly or severely ill patients. Pneumatic dilation provides superior results than botulinum toxin injection and a similar medium-term efficacy almost comparable to that attained after surgery. Per oral endoscopic myotomy is a promising option for treating achalasia, but it requires increased experience and further objective and long-term follow up. This article will review different endoscopic treatments in achalasia, and summarize the short-term and long-term outcomes. PMID:25228942

  17. Peroral endoscopic myotomy for esophageal achalasia

    PubMed Central

    Inoue, Haruhiro; Ikeda, Haruo; Sato, Hiroki; Sato, Chiaki; Hokierti, Chananya

    2014-01-01

    Peroral endoscopic myotomy (POEM) is one of the alternative treatment for achalasia. Due to concept of natural orifice transluminal endoscopic surgery (NOTES), it becomes popular and widely accepted. With the endoluminal technique, submucosal tunnel was created followed by endoscopic myotomy. POEM is not only indicated in classical achalasia but also other abnormal esophageal motility disorders. Moreover, failures of endoscopic treatment or surgical attempted cases are not contraindicated for POEM. The second attempted POEM is also safe and technically feasible. Even though the legend of success of POEM is fruitful, the possible complications are very frightened. Good training and delicate practice will reduce rate of complications. This review provides a summary of current state-of-the-art of POEM, including indication equipments, technique and complications. This perfect procedure may become the treatment of choice of achalasia and some esophageal motility disorders in the near future. PMID:25333007

  18. Current diagnosis and management of achalasia.

    PubMed

    Moonen, An; Boeckxstaens, Guy

    2014-07-01

    Achalasia is the best characterized primary esophageal motility disorder of the esophagus and typically presents with absent peristalsis of the esophageal body and a failure of the lower esophageal sphincter to relax upon swallowing on manometry, associated with progressively severe dysphagia, regurgitation, aspiration, chest pain, and weight loss. The diagnosis is suggested by barium swallow and endoscopy, and confirmed by manometry. As there is no curative treatment for achalasia, treatment is confined to disruption of the lower esophageal sphincter to improve bolus passage. Treatment modalities available for this purpose include pneumatic dilation, laparoscopic Heller myotomy and since recently peroral endoscopic myotomy or POEM. In this review, we will discuss the current diagnosis, management, and treatment options of achalasia.

  19. Prosthetic rehabilitation in patient with achalasia cardia — A rare case report

    PubMed Central

    Kondaka, Sudheer; Rao, Bathala L.; Reddy, Juturi R.; Akula, Rajesh

    2016-01-01

    Achalasia Cardia is an idiopathic esophageal motor disorder distinguished by the loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter. The oral manifestation of the disease is dental erosion caused by the regurgitation of the gastric contents and vomiting. A female patient aged 14 years reported to the Department of Prosthodontics, Lenora Institute of Dental Sciences, with complaints concerning aesthetics and pain in relation to several teeth. Patient gave history of loss of tooth structure over the past few years with associated sensitivity and pain in several teeth. Patient also gave history of inability to consume sufficient amount of food owing to the repeated vomiting. This paper aims to present a rare case report of achalasia cardia by rehabiliting the remaining teeth with overlay denture. PMID:27583229

  20. Prosthetic rehabilitation in patient with achalasia cardia - A rare case report.

    PubMed

    Kondaka, Sudheer; Rao, Bathala L; Reddy, Juturi R; Akula, Rajesh

    2016-01-01

    Achalasia Cardia is an idiopathic esophageal motor disorder distinguished by the loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter. The oral manifestation of the disease is dental erosion caused by the regurgitation of the gastric contents and vomiting. A female patient aged 14 years reported to the Department of Prosthodontics, Lenora Institute of Dental Sciences, with complaints concerning aesthetics and pain in relation to several teeth. Patient gave history of loss of tooth structure over the past few years with associated sensitivity and pain in several teeth. Patient also gave history of inability to consume sufficient amount of food owing to the repeated vomiting. This paper aims to present a rare case report of achalasia cardia by rehabiliting the remaining teeth with overlay denture. PMID:27583229

  1. Convergence Insufficiency

    MedlinePlus

    ... Eye Terms Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Convergence Insufficiency En Español Read in Chinese What is convergence insufficiency? Convergence insufficiency is the ...

  2. Endoscopic approaches to treatment of achalasia

    PubMed Central

    Friedel, David; Modayil, Rani; Iqbal, Shahzad; Grendell, James H.

    2013-01-01

    Endoscopic therapy for achalasia is directed at disrupting or weakening the lower esophageal sphincter (LES). The two most commonly utilized endoscopic interventions are large balloon pneumatic dilation (PD) and botulinum toxin injection (BTI). These interventions have been extensively scrutinized and compared with each other as well as with surgical disruption (myotomy) of the LES. PD is generally more effective in improving dysphagia in achalasia than BTI, with the latter reserved for infirm older people, and PD may approach treatment results attained with myotomy. However, PD may need to be repeated. Small balloon dilation and endoscopic stent placement for achalasia have only been used in select centers. Per oral endoscopic myotomy is a newer endoscopic modality that will likely change the treatment paradigm for achalasia. It arose from the field of natural orifice transluminal endoscopic surgery and represents a scarless endoscopic approach to Heller myotomy. This is a technique that requires extensive training and preparation and thus there should be rigorous accreditation and monitoring of outcomes to ensure safety and efficacy. PMID:23503707

  3. Achalasia and thyroid disease: possible autoimmune connection?

    PubMed

    Quidute, Ana Rosa P; Freitas, Eduardo Vasconcelos de; Lima, Tadeu Gonçalves de; Feitosa, Ana Márcia Lima; Santos, Joyce Paiva dos; Correia, José Walter

    2012-12-01

    Many cases have been published showing a co-existence of autoimmune thyroid diseases (AITDs) and other autoimmune diseases. About a quarter of patients with achalasia have a concurrent thyroid disease, most commonly associated with hypothyroidism. Although relatively rare, the association of achalasia and hyperthyroidism requires attention. The physiopathology of Grave's Disease (GD) involves B- and T-mediator lymphocytes, which have an affinity for known thyroid antigens: thyroglobulin, thyroid-peroxidase, and thyrotrophin receptor. Currently, however, the real physiopathogenesis of achalasia continues to be unknown. Some important findings are suggestive of an autoimmune mechanism: significant infiltration of the myoenteric plexus by monocytes, presence of the class II-Human Histocompatibility Complex DQwl antigen and antibodies to myoenteric neurons. The present case reports a patient who, despite testing negative for Chagas' disease, had achalasia, progressed to developing significant wasting and worsening of his quality of life, was later diagnosed with hyperthyroidism. After endoscopic esophageal dilatation and radioiodine ablation of the thyroid gland, there was great improvement in the patient clinical condition. PMID:23329193

  4. Update on the endoscopic treatments for achalasia

    PubMed Central

    Uppal, Dushant S; Wang, Andrew Y

    2016-01-01

    Achalasia is the most common primary motility disorder of the esophagus and presents as dysphagia to solids and liquids. It is characterized by impaired deglutitive relaxation of the lower esophageal sphincter. High-resolution manometry allows for definitive diagnosis and classification of achalasia, with type II being the most responsive to therapy. Since no cure for achalasia exists, early diagnosis and treatment of the disease is critical to prevent end-stage disease. The central tenant of diagnosis is to first rule out mechanical obstruction due to stricture or malignancy, which is often accomplished by endoscopic and fluoroscopic examination. Therapeutic options include pneumatic dilation (PD), surgical myotomy, and endoscopic injection of botulinum toxin injection. Heller myotomy and PD are more efficacious than pharmacologic therapies and should be considered first-line treatment options. Per oral endoscopic myotomy (POEM) is a minimally-invasive endoscopic therapy that might be as effective as surgical myotomy when performed by a trained and experienced endoscopist, although long-term data are lacking. Overall, therapy should be individualized to each patient’s clinical situation and based upon his or her risk tolerance, operative candidacy, and life expectancy. In instances of therapeutic failure or symptom recurrence re-treatment is possible and can include PD or POEM of the wall opposite the site of prior myotomy. Patients undergoing therapy for achalasia require counseling, as the goal of therapy is to improve swallowing and prevent late manifestations of the disease rather than to restore normal swallowing, which is unfortunately impossible.

  5. Oesophageal tone in patients with achalasia

    PubMed Central

    Gonzalez, M; Mearin, F; Vasconez, C; Armengol, J; Malagelada, J

    1997-01-01

    Background—The diagnosis and classification of oesophageal motility disorders is currently based on assessment of the phasic contractile activity of the oesophagus. Tonic muscular contraction of the oesophageal body (oesophageal tone) has not been well characterised. 
Aim—To quantify oesophageal tonic activity in healthy subjects and in patients with achalasia. 
Patients—Oesophageal tone was measured in 14 patients with untreated achalasia and in 14 healthy subjects. In eight patients with achalasia, oesophageal tone was again measured one month after either endoscopic or surgical treatment. 
Methods—Tonic wall activity was quantified by means of a flaccid intraoesophageal bag, 5 cm long and of 120 ml maximal capacity, which was placed and maintained 5 cm above the lower oesophageal sphincter and connected to an external electronic barostat. The experimental design included measurement of oesophageal basal tone and compliance as well as the oesophageal tone response to a nitric oxide donor (0.5 ml amyl nitrite inhalation). 
Results—Oesophageal basal tone, expressed as the intrabag (intraoesophageal) volume at a minimal distending pressure (2 mm Hg), did not differ significantly between patients with achalasia and healthy controls (6.6 (2.5) ml versus 4.1 (0.8) ml, respectively). Oesophageal compliance (volume/pressure relation during intraoesophageal distension) was significantly increased in achalasia (oesophageal extension ratio: 3.2 (0.4) ml/mm Hg versus 1.9 (0.2) ml/mm Hg; p< 0.01). Amyl nitrite inhalation induced oesophageal relaxation both in patients and in controls, but the magnitude of relaxation was greater in the latter (intrabag volume increase: 15.3 (2.4) ml versus 36.2 (7.1) ml; p<0.01). 
Conclusion—In patients with achalasia, oesophageal tonic activity, and not only phasic activity, is impaired. Although oesophageal compliance is increased, residual oesophageal tone is maintained so that a significant relaxant response may occur

  6. New insights into the pathophysiology of achalasia and implications for future treatment

    PubMed Central

    Furuzawa-Carballeda, Janette; Torres-Landa, Samuel; Valdovinos, Miguel Ángel; Coss-Adame, Enrique; Martín del Campo, Luis A; Torres-Villalobos, Gonzalo

    2016-01-01

    Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Even though idiopathic achalasia was first described more than 300 years ago, researchers are only now beginning to unravel its complex etiology and molecular pathology. The most recent findings indicate an autoimmune component, as suggested by the presence of circulating anti-myenteric plexus autoantibodies, and a genetic predisposition, as suggested by observed correlations with other well-defined genetic syndromes such as Allgrove syndrome and multiple endocrine neoplasia type 2 B syndrome. Viral agents (herpes, varicella zoster) have also been proposed as causative and promoting factors. Unfortunately, the therapeutic approaches available today do not resolve the causes of the disease, and only target the consequential changes to the involved tissues, such as destruction of the LES, rather than restoring or modifying the underlying pathology. New therapies should aim to stop the disease at early stages, thereby preventing the consequential changes from developing and inhibiting permanent damage. This review focuses on the known characteristics of idiopathic achalasia that will help promote understanding its pathogenesis and improve therapeutic management to positively impact the patient’s quality of life.

  7. New insights into the pathophysiology of achalasia and implications for future treatment.

    PubMed

    Furuzawa-Carballeda, Janette; Torres-Landa, Samuel; Valdovinos, Miguel Ángel; Coss-Adame, Enrique; Martín Del Campo, Luis A; Torres-Villalobos, Gonzalo

    2016-09-21

    Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Even though idiopathic achalasia was first described more than 300 years ago, researchers are only now beginning to unravel its complex etiology and molecular pathology. The most recent findings indicate an autoimmune component, as suggested by the presence of circulating anti-myenteric plexus autoantibodies, and a genetic predisposition, as suggested by observed correlations with other well-defined genetic syndromes such as Allgrove syndrome and multiple endocrine neoplasia type 2 B syndrome. Viral agents (herpes, varicella zoster) have also been proposed as causative and promoting factors. Unfortunately, the therapeutic approaches available today do not resolve the causes of the disease, and only target the consequential changes to the involved tissues, such as destruction of the LES, rather than restoring or modifying the underlying pathology. New therapies should aim to stop the disease at early stages, thereby preventing the consequential changes from developing and inhibiting permanent damage. This review focuses on the known characteristics of idiopathic achalasia that will help promote understanding its pathogenesis and improve therapeutic management to positively impact the patient's quality of life. PMID:27672286

  8. New insights into the pathophysiology of achalasia and implications for future treatment

    PubMed Central

    Furuzawa-Carballeda, Janette; Torres-Landa, Samuel; Valdovinos, Miguel Ángel; Coss-Adame, Enrique; Martín del Campo, Luis A; Torres-Villalobos, Gonzalo

    2016-01-01

    Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Even though idiopathic achalasia was first described more than 300 years ago, researchers are only now beginning to unravel its complex etiology and molecular pathology. The most recent findings indicate an autoimmune component, as suggested by the presence of circulating anti-myenteric plexus autoantibodies, and a genetic predisposition, as suggested by observed correlations with other well-defined genetic syndromes such as Allgrove syndrome and multiple endocrine neoplasia type 2 B syndrome. Viral agents (herpes, varicella zoster) have also been proposed as causative and promoting factors. Unfortunately, the therapeutic approaches available today do not resolve the causes of the disease, and only target the consequential changes to the involved tissues, such as destruction of the LES, rather than restoring or modifying the underlying pathology. New therapies should aim to stop the disease at early stages, thereby preventing the consequential changes from developing and inhibiting permanent damage. This review focuses on the known characteristics of idiopathic achalasia that will help promote understanding its pathogenesis and improve therapeutic management to positively impact the patient’s quality of life. PMID:27672286

  9. Adrenal Failure due to Adrenal Metastasis of Lung Cancer: A Case Report

    PubMed Central

    Faulhaber, Gustavo Adolpho Moreira; Borges, Flavia Kessler; Ascoli, Aline Maria; Seligman, Renato; Furlanetto, Tania Weber

    2011-01-01

    We report a case of a patient with adrenal failure due to bilateral adrenal metastasis of lung cancer. This is a rare presentation of lung cancer. We review the differential diagnosis of weight loss and how to make diagnosis of adrenal insufficiency. PMID:22606443

  10. Isolated glucocorticoid insufficiency.

    PubMed

    Werder, E A; Haller, R; Vetter, W; Zachmann, M; Siebenmann, R

    1975-07-01

    Two cases of isolated glucocorticoid insufficiency or congenital adrenocortical unresponsiveness to ACTH-a variant of adrenocortical failure without mineralocorticoid insufficiency-are presented. Familial incidence was present only in case 1 since two of the siblings died after convulsions, possible related to hypoglycemia. The pathology specimens of one sibling were available for review showing complete lack of the fascicular zone and degenerative changes in the adrenals and evidence of increased ACTH secretion in the pituitary. In the patients who were given substitution therapy with hydrocortisone, studies of plasma renin and aldosterone revealed impairment of plasma aldosterone response to salt restriction, orthostatism and furosemide-induced diuresis combined with postural change. We conclude that in some cases of isolated glucocorticoid insufficiency, impairment of mineralocorticoid function may gradually develop, which is in contrast to the assumption of a congenital defect in the action of ACTH.

  11. Adrenal crisis secondary to bilateral adrenal haemorrhage after hemicolectomy

    PubMed Central

    Tsang, Venessa H M; Kabir, Shahrir; Ip, Julian C Y

    2016-01-01

    Summary Adrenal haemorrhage is a rare cause of adrenal crisis, which requires rapid diagnosis, prompt initiation of parenteral hydrocortisone and haemodynamic monitoring to avoid hypotensive crises. We herein describe a case of bilateral adrenal haemorrhage after hemicolectomy in a 93-year-old female with high-grade colonic adenocarcinoma. This patient’s post-operative recovery was complicated by an acute hypotensive episode, hypoglycaemia and syncope, and subsequent computed tomography (CT) scan of the abdomen revealed bilateral adrenal haemorrhage. Given her labile blood pressure, intravenous hydrocortisone was commenced with rapid improvement of blood pressure, which had incompletely responded with fluids. A provisional diagnosis of hypocortisolism was made. Initial heparin-induced thrombocytopenic screen (HITTS) was positive, but platelet count and coagulation profile were both normal. The patient suffered a concurrent transient ischaemic attack with no neurological deficits. She was discharged on a reducing dose of oral steroids with normal serum cortisol levels at the time of discharge. She and her family were educated about lifelong steroids and the use of parenteral steroids should a hypoadrenal crisis eventuate. Learning points: Adrenal haemorrhage is a rare cause of hypoadrenalism, and thus requires prompt diagnosis and management to prevent death from primary adrenocortical insufficiency. Mechanisms of adrenal haemorrhage include reduced adrenal vascular bed capillary resistance, adrenal vein thrombosis, catecholamine-related increased adrenal blood flow and adrenal vein spasm. Standard diagnostic assessment is a non-contrast CT abdomen. Intravenous hydrocortisone and intravenous substitution of fluids are the initial management. A formal diagnosis of primary adrenal insufficiency should never delay treatment, but should be made afterwards.

  12. Management of achalasia: surgery or pneumatic dilation.

    PubMed

    Richter, Joel E; Boeckxstaens, Guy E

    2011-06-01

    Achalasia is an esophageal motility disorder of unknown cause, characterised by aperistalsis of the esophageal body and impaired lower esophageal sphincter relaxation. Patients present at all ages, primarily with dysphagia for solids/liquids and bland regurgitation. The diagnosis is suggested by barium esophagram or endoscopy and confirmed by esophageal manometry. Achalasia cannot be cured. Instead, our goal is to relieve symptoms, improve esophageal emptying and prevent the development of megaesophagus. The most successful therapies are pneumatic dilation and surgical myotomy. The advantages of pneumatic dilation include an outpatient procedure, minimal pain, return to work the next day, mild if any GERD, and can be performed in any age group and even during pregnancy. Pneumatic dilation does not hinder future myotomy, and all cost analyses find it less expensive than Heller myotomy. Laparoscopic myotomy with a partial fundoplication has the advantage of being a single procedure, dysphagia relief is longer at the cost of more troubling heartburn, and a myotomy may be more effective treatment in adolescents and younger adults, especially men. Over a two year horizon, the clinical success of pneumatic dilation and laparoscopic myotomy are comparable in a recent large European randomised trial. The prognosis for achalasia patients to return to near-normal swallowing and good quality of life are excellent, but few are "cured" with a single treatment and intermittent "touch up" procedures may be required. PMID:21303915

  13. Diagnosis and management of esophageal achalasia.

    PubMed

    Stavropoulos, Stavros N; Friedel, David; Modayil, Rani; Parkman, Henry P

    2016-01-01

    Achalasia is a rare esophageal motility disorder that is usually idiopathic in origin. It is characterized by dysphagia, and patients often have chest pain, regurgitation, weight loss, and an abnormal barium radiograph showing esophageal dilation with narrowing at the gastroesophageal junction. Abnormal or absent esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES) are typically seen on esophageal manometry. The advent of high resolution manometry (HRM) has allowed more precise diagnosis of achalasia, subtype designation, and differentiation from other esophageal motor disorders with an initial seminal publication in 2008 followed by further refinements of what has been termed the Chicago classification. Potential treatments include drugs, endoscopic botulinum toxin injection, balloon dilation, traditional surgery (usually laparoscopic Heller myotomy; LHM), and a novel, less invasive, natural orifice transluminal endoscopic surgery (NOTES) approach to Heller myotomy termed peroral endoscopic myotomy (POEM). The first human POEM was performed in 2008, with the first publication appearing in 2010 and evidence now rapidly accumulating showing POEM to be comparable to traditional surgery in terms of clinical success and radiologic and manometric post-therapy outcomes. This review discusses the diagnosis and management of achalasia with particular emphasis on the recent developments of HRM and POEM, which arguably represent the most important advances in the field since the advent of laparoscopic Heller myotomy in the 1990s. PMID:27625387

  14. Peroral Endoscopic Myotomy for the Treatment of Achalasia: An Analysis

    PubMed Central

    Yang, Dennis; Wagh, Mihir S.

    2013-01-01

    Achalasia is a motility disorder of the esophagus, characterized by aperistalsis of the esophageal body and incomplete relaxation of the lower esophageal sphincter (LES). Treatment of achalasia is currently aimed at decreasing the resting pressure in the LES. Peroral endoscopic myotomy (POEM) is an emerging novel endoscopic procedure for the treatment of achalasia with initial data suggesting an acceptable safety profile, excellent short-term symptom resolution, low incidence of postprocedural gastroesophageal reflux (GER), and improvement in manometric outcomes. Further prospective randomized trials are required to evaluate the long-term effectiveness of this promising technique compared to other treatment modalities for achalasia. In this review we outline the technical aspects of POEM, summarize the available data on safety and outcomes, and suggest future directions for further advancement of this minimally invasive approach for the treatment of achalasia. PMID:24282373

  15. Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes.

    PubMed

    O'Neill, Orla M; Johnston, Brian T; Coleman, Helen G

    2013-09-21

    Achalasia is a neurodegenerative motility disorder of the oesophagus resulting in deranged oesophageal peristalsis and loss of lower oesophageal sphincter function. Historically, annual achalasia incidence rates were believed to be low, approximately 0.5-1.2 per 100000. More recent reports suggest that annual incidence rates have risen to 1.6 per 100000 in some populations. The aetiology of achalasia is still unclear but is likely to be multi-factorial. Suggested causes include environmental or viral exposures resulting in inflammation of the oesophageal myenteric plexus, which elicits an autoimmune response. Risk of achalasia may be elevated in a sub-group of genetically susceptible people. Improvement in the diagnosis of achalasia, through the introduction of high resolution manometry with pressure topography plotting, has resulted in the development of a novel classification system for achalasia. This classification system can evaluate patient prognosis and predict responsiveness to treatment. There is currently much debate over whether pneumatic dilatation is a superior method compared to the Heller's myotomy procedure in the treatment of achalasia. A recent comparative study found equal efficacy, suggesting that patient preference and local expertise should guide the choice. Although achalasia is a relatively rare condition, it carries a risk of complications, including aspiration pneumonia and oesophageal cancer. The risk of both squamous cell carcinoma and adenocarcinoma of the oesophagus is believed to be significantly increased in patients with achalasia, however the absolute excess risk is small. Therefore, it is currently unknown whether a surveillance programme in achalasia patients would be effective or cost-effective.

  16. The treatment of achalasia. A current perspective.

    PubMed

    Sauer, L; Pellegrini, C A; Way, L W

    1989-08-01

    We analyzed the course of 79 adult patients treated for achalasia between 1977 and 1988. Sixty-six patients (84%) had pneumatic dilatation as the primary therapy. Fifty-three patients (80%) had immediate improvement in swallowing. Three patients required immediate redilatation, 2 developed pulmonary aspiration, and 8 (12%) suffered esophageal perforation. Esophageal perforation was treated by closure plus Heller's myotomy in 3 patients, closure only in 3, chest tube in 1, and antibiotics and nasogastric suction in 1. At 4 years' follow-up, 50% of patients who had dilatation remained asymptomatic, 30% had symptoms of gastroesophageal reflux, and 20% had persistent dysphagia. Eight Heller myotomies were performed, with excellent results in 7 and 1 postoperative death from respiratory failure. Seven additional patients with disabling esophageal symptoms after multiple operations for achalasia were ultimately treated by esophagectomy (n = 5), hemigastrectomy and Roux-en-Y gastrojejunostomy (n = 1), and repeated myotomy (n = 1). All recovered and are able to eat solid food. Thus, our experience indicates that pneumatic dilatation remains unperfected (ie, the line between undertreatment and overtreatment is finer than generally recognized), and unless improvements can be made, the role for surgery may need to be reexpanded.

  17. Placental insufficiency

    MedlinePlus

    ... mother is as healthy as possible during the pregnancy. Smoking, alcohol, and other recreational drugs can interfere with the baby's growth. Avoiding these substances may help prevent placental insufficiency and other pregnancy complications.

  18. Surgery or Peroral Esophageal Myotomy for Achalasia

    PubMed Central

    Marano, Luigi; Pallabazzer, Giovanni; Solito, Biagio; Santi, Stefano; Pigazzi, Alessio; De Luca, Raffaele; Biondo, Francesco Giuseppe; Spaziani, Alessandro; Longaroni, Maurizio; Di Martino, Natale; Boccardi, Virginia; Patriti, Alberto

    2016-01-01

    Abstract To date very few studies with small sample size have compared peroral esophageal myotomy (POEM) with the current surgical standard of care, laparoscopic Heller myotomy (LHM), in terms of efficacy and safety, and no recommendations have been proposed. To investigate the efficacy and safety of POEM compared with LHM, for the treatment of achalasia. The databases of Pubmed, Medline, Cochrane, and Ovid were systematically searched between January 1, 2005 and January 31, 2015, with the medical subject headings (MeSH) and keywords “achalasia,” “POEM,” “per oral endoscopic myotomy,” and “peroral endoscopic myotomy,” “laparoscopic Heller myotomy” (LHM), “Heller myotomy.” All types of study designs including adult patients with diagnosis of achalasia were selected. Studies that did not report the comparison between endoscopic and surgical treatment, experimental studies in animal models, single case reports, technical reports, reviews, abstracts, and editorials were excluded. The total number of included patients was 486 (196 in POEM group and 290 in LHM group). There were no differences between POEM and LHM in reduction in Eckardt score (MD = −0.659, 95% CI: −1.70 to 0.38, P = 0.217), operative time (MD = −0.354, 95% CI: −1.12 to 0.41, P = 0.36), postoperative pain scores (MD = −1.86, 95% CI: −5.17 to 1.44, P = 0.268), analgesic requirements (MD = −0.74, 95% CI: −2.65 to 1.16, P = 0.445), and complications (OR = 1.11, 95% CI: 0.5–2.44, P = 0.796). Length of hospital stay was significantly lower for POEM (MD = −0.629, 95% CI: −1.256 to −0.002, P = 0.049). There was a trend toward significant reduction in symptomatic gastroesophageal reflux rate in favors of LHM compared to POEM group (OR = 1.81, 95% CI: 1.11–2.95, P = 0.017). All included studied were not randomized. Furthermore all selected studies did not report the results of follow-up longer than 1 year and

  19. Bronchiolitis obliterans organizing pneumonia associated with achalasia: A case report.

    PubMed

    Malek, Farhad; Nobakhat, Hossein; Hemmati, Hamidreza

    2016-01-01

    There is little mention in the literature about achalasia as an etiologic factor of Bronchiolitis obliterans organizing pneumonia (BOOP). In this study, a case of BOOP, which appeared to be secondary to achalasia is reported. A 35 years old man present with nonproductive cough, chills and fever from two month ago. Due to permanent consolidation in mid zone of right lung and unresponsive to antibiotics, transthoracic needle biopsy was done that showed BOOP. Due to esophageal dilatation in chest computerized tomography (CT) scan, endoscopy and esophagogram was done that showed achalasia. After surgery and a course of corticosteroid the patient condition became well. This report demonstrates that achalasia may be associated with BOOP. PMID:27408784

  20. New Endoscopic Indicator of Esophageal Achalasia: “Pinstripe Pattern”

    PubMed Central

    Minami, Hitomi; Isomoto, Hajime; Miuma, Satoshi; Kobayashi, Yasutoshi; Yamaguchi, Naoyuki; Urabe, Shigetoshi; Matsushima, Kayoko; Akazawa, Yuko; Ohnita, Ken; Takeshima, Fuminao; Inoue, Haruhiro; Nakao, Kazuhiko

    2015-01-01

    Background and Study Aims Endoscopic diagnosis of esophageal achalasia lacking typical endoscopic features can be extremely difficult. The aim of this study was to identify simple and reliable early indicator of esophageal achalasia. Patients and Methods This single-center retrospective study included 56 cases of esophageal achalasia without previous treatment. As a control, 60 non-achalasia subjects including reflux esophagitis and superficial esophageal cancer were also included in this study. Endoscopic findings were evaluated according to Descriptive Rules for Achalasia of the Esophagus as follows: (1) esophageal dilatation, (2) abnormal retention of liquid and/or food, (3) whitish change of the mucosal surface, (4) functional stenosis of the esophago-gastric junction, and (5) abnormal contraction. Additionally, the presence of the longitudinal superficial wrinkles of esophageal mucosa, “pinstripe pattern (PSP)” was evaluated endoscopically. Then, inter-observer diagnostic agreement was assessed for each finding. Results The prevalence rates of the above-mentioned findings (1–5) were 41.1%, 41.1%, 16.1%, 94.6%, and 43.9%, respectively. PSP was observed in 60.7% of achalasia, while none of the control showed positivity for PSP. PSP was observed in 26 (62.5%) of 35 cases with shorter history < 10 years, which usually lacks typical findings such as severe esophageal dilation and tortuosity. Inter-observer agreement level was substantial for food/liquid remnant (k = 0.6861) and PSP (k = 0.6098), and was fair for abnormal contraction and white change. The accuracy, sensitivity, and specificity for achalasia were 83.8%, 64.7%, and 100%, respectively. Conclusion “Pinstripe pattern” could be a reliable indicator for early discrimination of primary esophageal achalasia. PMID:25664812

  1. Neurologic complications of disorders of the adrenal glands.

    PubMed

    Bertorini, Tulio E; Perez, Angel

    2014-01-01

    Disorders of the adrenal glands frequently have secondary neurological manifestations, while some diseases that involve the central nervous system are accompanied by adrenal gland dysfunction. Excessive corticosteroid secretions in primary or secondary Cushing's syndrome causes muscle weakness and behavioral disturbances, such as emotional lability and sometimes depression, while adrenal insufficiency may cause fatigue, weakness, and depression. Adrenoleukodystrophy and adrenoneuromyelopathy are X-linked recessive disorders of the metabolism of very long chain fatty acids that manifest with white matter abnormalities of the brain, myelopathy and/or neuropathy, as well as adrenal insufficiency. Other disorders of the adrenal glands include hyperaldosteroidism, which may cause weakness from hypokalemia. Dysfunction of the adrenal medulla causes excessive or deficient secretion of catecholamines, primarily causing cardiovascular symptoms. This chapter reviews the clinical manifestations and diagnostic aspects and treatment of the various disorders of the adrenal glands. Some of the congenital adrenal diseases are also discussed.

  2. Achalasia Combined with Esophageal Cancer Treated by Concurrent Chemoradiation Therapy

    PubMed Central

    Park, Jun Chul; Kim, Sang Kyum; Kim, Yu Jin; Shin, Sung Kwan; Lee, Sang Kil; Kim, Hoguen; Kim, Choong Bai

    2009-01-01

    Achalasia is a rare neurological deficit of the esophagus that produces an impaired relaxation of the lower esophageal sphincter and decreased motility of the esophageal body. Achalasia is generally accepted to be a pre-malignant disorder, since, particularly in the mega-esophagus, chronic irritation by foods and bacterial overgrowth may contribute to the development of dysplasia and carcinoma. We present a case of a 51-year-old man with achalasia combined with esophageal cancer who has had dysphagia symptoms for more than 20 years. Since there was a clinically high possibility of supraclavicular lymph node metastasis, concurrent chemoradiation therapy was scheduled. After the third cycle of chemoradiation therapy, transthoracic esophageolymphadenectomy was performed. Histopathological examination of the main esophagus specimen revealed no residual carcinoma. And the entire regional lymph node areas were free of carcinoma except for one azygos metastatic lymph node. In summary, achalasia is a predisposing factor for esophageal squamous cell carcinoma. Although surveillance endoscopy in achalasia patients is still controversial, periodic screening for cancer development in long-standing achalasia patients might be advisable. PMID:20431771

  3. A case of non-Hodgkin's lymphoma primary arising in both adrenal glands associated with adrenal failure.

    PubMed

    Nishiuchi, Takamasa; Imachi, Hitomi; Fujiwara, Mako; Murao, Koji; Onishi, Hiroaki; Kiguchi, Tohru; Takimoto, Hidetaka; Kushida, Yoshio; Haba, Reiji; Ishida, Toshihiko

    2009-02-01

    It is known that adrenal insufficiency is one of the complications in primary adrenal lymphoma, especially those with bilateral adrenal involvement. A 73-year-old man was referred for general fatigue and high fever to the nearest hospital. The patient was transferred to our hospital for evaluation of bilateral adrenal tumors and hyponatremia. He was diagnosed as having non-Hodgkin's lymphoma (NHL) with primaries arising in both adrenal glands. Primary adrenal lymphoma (PAL) is a rare extra-nodal NHL. Although an appropriate treatment of this disease has not been established, our case has demonstrated that the combination of rituximab and THP-COP chemotherapy could be administered, and that it improved clinical manifestations. This case raises the suggestion that malignant lymphoma should be suspected in patients with bilateral adrenal tumors that present with progressive adrenal insufficiency.

  4. A clinical and immunological study of adrenocortical insufficiency (Addison's disease)

    PubMed Central

    Irvine, W. J.; Stewart, A. G.; Scarth, Laura

    1967-01-01

    Fifty-one patients with adrenocortical insufficiency were subdivided into three groups according to the nature of their adrenal disease; twelve patients with idiopathic, twenty-three patients with probable idiopathic and sixteen patients with tuberculous adrenal insufficiency. The importance of objective confirmation of a clinical diagnosis of adrenal insufficiency is stressed and the difficulties of classification of many patients with adult onset adrenal insufficiency are discussed. Idiopathic and probable idiopathic adrenal insufficiency had a sex ratio that was predominantly female (2·5:1) with a mean age of onset of 33 years. Antibodies to adrenal cortex were detected by the methods of immunofluorescence and complement fixation. They were detected in the serum of 80% (20:25) of the females with idiopathic or probable idiopathic adrenal insufficiency and in only 10% (1:10) of the males. The titre of the adrenal antibody was low (≤32) as tested either by immunofluorescence or complement fixation. The serum of only one patient with tuberculous adrenal insufficiency reacted with adrenal tissue in the complement fixation test but the immunofluorescence method showed that this serum reacted with the vascular endothelium and not the secretory cells. No correlation was observed between the duration of the clinical illness and the presence, or absence, or titre of the adrenal antibody. Adrenal antibody was not detected in the sera of fifty-one control subjects matched for age and sex. Four of sixty-nine patients with lymphadenoid goitre, one out of ninety-three patients with diabetes mellitus and none of 230 patients with thyrotoxicosis, primary hypothyroidism or pernicious anaemia had antibody in the serum specific for adrenocortical secretory cells. There is a clinical and immunological overlap between idiopathic adrenal insufficiency and other diseases associated with autoimmune phenomena— thyroid disease, atrophic gastritis and hypoparathyroidism. It is

  5. SAH pituitary adrenal dysfunction.

    PubMed

    Vespa, P

    2011-09-01

    Disruption of the hypothalamic-pituitary-adrenal axis may occur after aneurysmal subarachnoid hemorrhage, resulting in hypopituitarism. An electronic literature search was conducted to identify articles with English-language abstracts published between 1980 and March 2011 that addressed hypothalamic-pituitary-adrenal axis insufficiency and hormone replacement. A total of 18 observational and prospective, randomized studies were selected for this review. Limited data are available evaluating pituitary effects during the acute stage after subarachnoid hemorrhage, with inconsistent results reported. Overall, acutely after subarachnoid hemorrhage, cortisol levels may initially be supranormal, decreasing toward normal levels over time. During the months to years after subarachnoid hemorrhage, pituitary deficiency may occur in up to one in three patients. Limited data suggest modest outcome benefits with fludrocortisone and no benefit or harm from corticosteroids. PMID:21800209

  6. Adrenal myelolipoma.

    PubMed

    Cyran, K M; Kenney, P J; Memel, D S; Yacoub, I

    1996-02-01

    In 1905, Gierke [1] first described the occurrence of a tumor in the adrenal composed of mature fat and mixed myeloid and erythroid cells, subsequently termed "formations myelolipomatoses" by Oberling [2] in 1929. PMID:8553954

  7. [Per-oral endoscopic myotomy in achalasia].

    PubMed

    Ponds, Fraukje A M; Smout, André J P M; Bredenoord, Albert J; Fockens, Paul

    2015-01-01

    The treatment of patients with achalasia is complex due to a considerably high recurrence rate and risk of treatment-related complications. The per-oral endoscopic myotomy (POEM) is a new endoscopic technique that combines the benefits of a minimally invasive endoscopic procedure with the efficacy of a surgical myotomy. Implementation of the POEM technique may lead to fewer complications, a lower recurrence rate and reduced costs. During the procedure, a myotomy of the circular muscle layer of the oesophagus is performed after creating a submucosal tunnel in the oesophagus. The first studies of this new technique show promising results. Experienced therapeutic endoscopists can learn to perform the POEM technique relatively easily. Further studies are needed to compare this technique with the current standard treatments and to evaluate long-term effects. PMID:25990334

  8. Adrenal haemorrhage with cholestasis and adrenal crisis in a newborn of a diabetic mother.

    PubMed

    Koklu, Esad; Kurtoglu, Selim; Akcakus, Mustafa; Koklu, Selmin

    2007-03-01

    The large hyperaemic foetal adrenal gland is vulnerable to vascular damage. This may occur in the neonatal period as a consequence of difficult labour, or its aetiology may not be apparent. The spectrum of presentation is considerable, ranging from asymptomatic to severe life-threatening intra-abdominal haemorrhage. The presentation of adrenal insufficiency may be delayed but the regenerative capacity of the adrenal is great, and most adrenal haemorrhage is not associated with significantly impaired function. Some reports showed that cholestatic hepatopathy with congenital hypopituitarism reversed by hydrocortisone treatment is considered in the context of the endocrine syndrome, probably as a consequence of the adrenal failure. We describe a case of bilateral adrenal haemorrhage with hepatitis syndrome and persistent hypoglycaemia in a newborn male with striking features of neonatal cholestasis and adrenal crisis.

  9. Adrenal crisis provoked by dental infection: case report and review of the literature.

    PubMed

    Milenkovic, Ana; Markovic, Dejan; Zdravkovic, Dragan; Peric, Tamara; Milenkovic, Tatjana; Vukovic, Rade

    2010-09-01

    Primary adrenal insufficiency is an endocrine disorder characterized by cortisol and aldosterone deficiency caused by destruction of the adrenal cortex. Adrenal crisis is a medical emergency with acute symptoms: nausea, vomiting, abdominal pain, fever, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure. It occurs in patients with chronic adrenal insufficiency who are exposed to additional stress, such as infection, trauma, or surgical procedures. Dental infection is a possible cause of adrenal crisis in patients with chronic adrenal insufficiency, so pediatric endocrinologists and pediatric dentists should be aware of this risk. The purpose of this report was to present a 6-year-old patient in whom Addison disease was diagnosed through adrenal crisis provoked by dental infection. The patient was treated with intravenous rehydration, intravenous hydrocortisone and antibiotics, and extraction of the infected primary tooth. Multidisciplinary approach and collaboration between the pediatric endocrinologist and the pediatric dentist are necessary to enable adequate medical and dental treatment in children with primary adrenal insufficiency.

  10. Histoplasmosis of the adrenal glands studied by CT

    SciTech Connect

    Wilson, D.A.; Muchmore, H.G.; Tisdal, R.G.; Fahmy, A.; Pitha, J.V.

    1984-03-01

    Computed tomography (CT) of the adrenal glands was performed on seven patients who had histologically proved disseminated histoplasmosis. All seven patients showed some degree of adrenal gland abnormality. The range of CT findings included minimal enlargement with faint flecks of calcium, moderate enlargement with focal low attenuation nodules, and massive enlargement with large areas of necrosis or dense calcification. The changes in each patient were bilateral and symmetrical. Adrenal gland shape was usually preserved. Finding of percutaneous adrenal biopsy, which was performed under CT guidance, made the diagnosis in one patient. Five of seven patients had adrenal insufficiency. It is concluded that the diagnosis of disseminated histoplasmosis should be considered in any patient who has bilateral adrenal gland enlargement and who resides in an endemic area, especially if there is evidence of adrenal insufficiency.

  11. Adrenal Function Testing Following Hormone Therapy for Infantile Spasms: Case Series and Review of Literature

    PubMed Central

    Mytinger, John R.; Bowden, Sasigarn A.

    2015-01-01

    Prednisolone and adrenocorticotropic hormone (ACTH) are “hormone” therapies for infantile spasms. There is limited data on the occurrence of decreased adrenal reserve or signs of clinical adrenal insufficiency after hormone therapy. This is a retrospective medical record review of patients referred to our Infantile Spasms Program. Our standardized infantile spasms management guideline began in September 2012 and initially included a post-hormone laboratory assessment of adrenal function. Medical records were assessed for hormone treatments, adrenal function testing, and signs of adrenal insufficiency. Forty-two patients who received one or both hormone therapies met inclusion criteria. A post-hormone laboratory assessment of adrenal function was done in 14 patients. Of these 14 patients, 2 had an abnormal laboratory assessment of adrenal function, both by adrenal stimulation testing – one after ACTH and one after prednisolone. One patient received hydrocortisone replacement and the other received stress dose hydrocortisone as needed; neither patient developed signs of adrenal insufficiency. Another patient treated with both types of hormone therapy in tandem, who did not have a post-hormone laboratory assessment, developed signs of mild adrenal insufficiency and required replacement hydrocortisone. Our study suggests that adrenal suppression can occur after modern hormone therapy regimens. We found two patients with abnormal adrenal function testing after hormone therapy and another patient with signs adrenal insufficiency. Given the seriousness of adrenal crisis, caregiver education on the signs of adrenal insufficiency is critical. Greater vigilance may be indicated in patients receiving both types of hormone therapy in tandem. Although a routine post-hormone laboratory assessment of adrenal function may not be feasible in all patients, replacement or stress dose hydrocortisone is necessary for all patients with suspected adrenal insufficiency. PMID

  12. A case of chronic adrenocortical insufficiency with iatrogenic anasarca.

    PubMed

    Parlapiano, C; Campana, E; Pantone, P; Giovanniello, T; Borgia, M C

    2000-01-01

    The decrease in active hormones that characterizes chronic adrenal insufficiency results in hypovolemia. In some patients, residual adrenal function, mineralocorticoid therapy, and concomitant heart or liver failure, or both, can paradoxically provoke edema. The case report that follows describes a patient with iatrogenically induced anasarca resulting from the unhappy confluence of usually appropriate therapy and coexisting medical conditions. PMID:11010057

  13. Peroral Endoscopic Myotomy for Treating Achalasia and Esophageal Motility Disorders

    PubMed Central

    Youn, Young Hoon; Minami, Hitomi; Chiu, Philip Wai Yan; Park, Hyojin

    2016-01-01

    Peroral endoscopic myotomy (POEM) is the application of esophageal myotomy to the concept of natural orifice transluminal surgery (NOTES) by utilizing a submucosal tunneling method. Since the first case of POEM was performed for treating achalasia in Japan in 2008, this procedure is being more widely used by many skillful endosopists all over the world. Currently, POEM is a spotlighted, emerging treatment option for achalasia, and the indications for POEM are expanding to include long-standing, sigmoid shaped esophagus in achalasia, even previously failed endoscopic treatment or surgical myotomy, and other spastic esophageal motility disorders. Accumulating data about POEM demonstrate excellent short-term outcomes with minimal risk of major adverse events, and some existing long-term data show the efficacy of POEM to be long lasting. In this review article, we review the technical details and clinical outcomes of POEM, and discuss some considerations of POEM in special situations. PMID:26717928

  14. Achalasia 5 years following Roux-en-y gastric bypass

    PubMed Central

    Torghabeh, Mehyar Hefazi; Afaneh, Cheguevara; Saif, Taha; Dakin, Gregory F.

    2015-01-01

    Oesophageal achalasia is a rare, but serious condition in which the motility of the lower oesophageal sphincter (LES) is inhibited. This disorder of idiopathic aetiology complicates the peristaltic function and relaxation of the LES that may cause symptoms such as dysphagia, epigastric pain, and regurgitation of an obstructed food. The following case describes achalasia in a patient 5 years following a laparoscopic Roux-en-Y gastric bypass (RYGB). The patient underwent a laparoscopic Heller myotomy without a fundoplication. Although achalasia seems to be a rare occurrence in obese patients, this is the third case documented in a patient who previously had an RYGB. The role of performing a fundoplication in these patients remains to be elucidated. PMID:26195880

  15. Surgical treatment analysis of idiopathic esophageal achalasia

    PubMed Central

    de AQUINO, José Luis Braga; SAID, Marcelo Manzano; PEREIRA, Douglas Rizzanti; do AMARAL, Paula Casals; LIMA, Juliana Carolina Alves; LEANDRO-MERHI, Vânia Aparecida

    2015-01-01

    Background Idiopathic esophageal achalasia is an inflammatory disease of unknown origin, characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter in response to swallowing, with consequent dysphagia. Aim To demonstrate the results of surgical therapy in these patients, evaluating the occurred local and systemic complications. Methods Were studied retrospectively 32 patients, 22 of whom presented non-advanced stage of the disease (Stage I/II) and 10 with advanced disease (Stage III/IV). All of them had the clinical conditions to be submitted to surgery. The diagnoses were done by clinical, endoscopic, cardiological, radiological and esophageal manometry analysis. Pre-surgical evaluation was done with a questionnaire based on the most predisposing factors in the development of the disease and the surgical indication was based on the stage of the disease. Results The patients with non-advanced stages were submitted to cardiomyotomy with fundoplication, wherein in the post-surgical early assessment, only one (4,4%) presented pulmonary infection, but had a good outcome. In patients with advanced disease, seven were submitted to esophageal mucosectomy preserving the muscular layer, wherein one patient (14,2%) presented dehiscence of gastric cervical esophagus anastomosis as well as pulmonary infection; all of these complications were resolved with proper specific treatment; the other three patients with advanced stage were submitted to transmediastinal esophagectomy; two of them presented hydropneumothorax with good evolution, and one of them also presented fistula of the cervical esophagogastric anastomosis, but with spontaneous healing after conservative treatment and nutritional support. The two patients with fistula of the cervical anastomosis progressed to stenosis, with good results after endoscopic dilations. In the medium and long term assessment done in 23 patients, all of them reported improvement in life quality, with

  16. Clinical application of endoscopic ultrasonography for esophageal achalasia.

    PubMed

    Minami, Hitomi; Inoue, Haruhiro; Isomoto, Hajime; Urabe, Shigetoshi; Nakao, Kazuhiko

    2015-04-01

    Endoscopic ultrasonography (EUS) has been widely used for evaluating the nature of diseases of various organs. The possibility of applying EUS for esophageal motility diseases has not been well discussed despite its versatility. At present, peroral endoscopic myotomy (POEM) for esophageal achalasia and related diseases has brought new attention to esophageal diseases because POEM provides a more direct approach to the inner structures of the esophageal wall. In the present study, we discuss the clinical utility of EUS in evaluating and treating esophageal motility diseases such as esophageal achalasia and related diseases. PMID:25573637

  17. [A case of esophageal achalasia followed by Parkinson's disease].

    PubMed

    Mitani, Maki; Kawamoto, Kunihiko; Funakawa, Itaru; Jinnai, Kenji

    2005-08-01

    In 1992, a 63 year-old woman complained of dysphagia and chest pain, and was diagnosed with esophageal achalasia. Three years later, she developed resting tremor, cog-wheel rigidity, and retro-pulsion, and was diagnosed with Parkinson's disease and given appropriate medication. Several years later, intractable vomitting and aspiration pneumonia developed, and the lower esophageal sphincter was dilated using a pneumatic balloon dilator under gastroscopic guidance in 2004. That procedure improved her symptoms and the esophageal dilation was visualized on chest CT images. Herein, we report this rare case of esophageal achalasia followed by Parkinson's disease and discuss the relationship between the two diseases.

  18. Bilateral adrenal [corrected] nodules due to histoplasmosis in an elderly.

    PubMed

    Carvalho, Flávio Pedreira de Freitas de; Curiati, José Antônio Esper; Mauad, Thaís; Incerti, Milena Mendes; Jacob Filho, Wilson

    2007-02-01

    We report a case history of an 84-year-old elderly male patient that presented with a clinical picture suggestive of adrenal failure and bilateral adrenal nodules detected by abdominal computed tomography. A fine needle-guided biopsy was inconclusive for achieving a final diagnosis. The patient died due to septic shock and the autopsy disclosed histoplasmosis with extensive bilateral necrosis of the adrenal glands. Although the adrenal involvement in chronic disseminated histoplasmosis has been described, there have been few reports of the infection being associated with adrenal insufficiency.

  19. Recognition and management of adrenal emergencies.

    PubMed

    Torrey, Susan P

    2005-08-01

    Although clinical conditions associated with dysfunction of the ad-renal gland are often subtle, even insidious, in their presentation,and diagnosis and treatment usually are confined to outpatient clinics and offices, there are several situations that warrant the attention of emergency physicians. Recognition of the spectrum of presentations of pheochromocytoma, adrenal insufficiency, and pituitary apoplexy, and the sequelae of corticosteroid therapy and withdrawal, are critically important areas to emergency medicine. Prompt diagnosis with appropriate treatment and referral will reduce morbidity and mortality in many patients each year. A related topic pertinent to emergency physicians is the management of incidental adrenal masses that are discovered on abdominal radio-logic imaging.

  20. Extensive expertise in endocrinology. Adrenal crisis.

    PubMed

    Allolio, Bruno

    2015-03-01

    Adrenal crisis is a life-threatening emergency contributing to the excess mortality of patients with adrenal insufficiency. Studies in patients on chronic replacement therapy for adrenal insufficiency have revealed an incidence of 5-10 adrenal crises/100 patient years and suggested a mortality rate from adrenal crisis of 0.5/100 patient years. Patients with adrenal crisis typically present with profoundly impaired well-being, hypotension, nausea and vomiting, and fever responding well to parenteral hydrocortisone administration. Infections are the major precipitating causes of adrenal crisis. Lack of increased cortisol concentrations during infection enhances pro-inflammatory cytokine release and sensitivity to the toxic effects of these cytokines (e.g. tumour necrosis factor alpha). Furthermore, pro-inflammatory cytokines may impair glucocorticoid receptor function aggravating glucocorticoid deficiency. Treatment of adrenal crisis is simple and highly effective consisting of i.v. hydrocortisone (initial bolus of 100  mg followed by 200  mg over 24  h as continuous infusion) and 0.9% saline (1000  ml within the first hour). Prevention of adrenal crisis requires appropriate hydrocortisone dose adjustments to stressful medical procedures (e.g. major surgery) and other stressful events (e.g. infection). Patient education is a key for such dose adjustments but current education concepts are not sufficiently effective. Thus, improved education strategies are needed. Every patient should carry an emergency card and should be provided with an emergency kit for parenteral hydrocortisone self-administration. A hydrocortisone pen would hold a great potential to lower the current barriers to hydrocortisone self-injection. Improved patient education and measures to facilitate parenteral hydrocortisone self-administration in impending crisis are expected to significantly reduce morbidity and mortality from adrenal crisis.

  1. An endocrinologist's view on relative adrenocortical insufficiency in rheumatoid arthritis.

    PubMed

    Imrich, Richard; Vlcek, Miroslav; Aldag, Jean C; Kerlik, Jana; Radikova, Zofia; Rovensky, Jozef; Vigas, Milan; Masi, Alfonse T

    2010-04-01

    The concept of relative adrenal insufficiency (RAI) has been originally introduced to describe a situation in which critically ill patients, without any prior risk or evidence for adrenal insufficiency, have total serum cortisol levels inadequate for the severity of patients' illness. The concept provided a framework for other disease states, in which higher than normal adrenal function could be expected, such as in chronic inflammation. An intense research in RAI field highlighted some new methodological aspects that significantly improved assessment of adrenal function in chronic illness. Measurement of salivary cortisol may provide additional information on locally available cortisol in target tissues. Low levels of dehydroepiandrosterone (DHEAS) for given age and gender were confirmed as a simple and reliable indicator of decreased adrenal function, even in subjects with normal baseline cortisol or normal corticotropin-stimulated cortisol response. Combined lower DHEAS and lower baseline cortisol levels could be an example of hypocompetence of adrenocortical function, yet clinically not apparent. PMID:20398019

  2. Per-oral endoscopic myotomy for achalasia: An American perspective.

    PubMed

    Friedel, David; Modayil, Rani; Iqbal, Shahzad; Grendell, James H; Stavropoulos, Stavros N

    2013-09-16

    Achalasia is an uncommon esophageal motility disorder characterized by the selective loss of enteric neurons leading to absence of peristalsis and impaired relaxation of the lower esophageal sphincter. Per-oral endoscopic myotomy (POEM) is a novel modality for the treatment of achalasia performed by gastroenterologists and surgeons. It represents a natural orifice transluminal endoscopic surgery (NOTES) approach to Heller myotomy. POEM has the minimal invasiveness of an endoscopic procedure that can duplicate results of the surgical Heller myotomy. POEM is conceptually similar to a surgical myotomy without the inherent external incisions and post-operative care associated with surgery. Initial high success and low complications rates promise a great future for this technique. In fact, POEM has been successfully performed on patients with end-stage achalasia as an initial treatment reserving esophagectomy for those without good response. The volume of POEMs performed worldwide has grown exponentially. In fact, surgeons who have performed Heller myotomy have embraced POEM as the preferred intervention for achalasia. However, the niche of POEM remains to be defined and long term results are awaited. We describe our experience with POEM having performed the first POEM outside of Japan in 2009, the evolution of our technique, and give our perspective on its future. PMID:24044040

  3. Data analyses and perspectives on laparoscopic surgery for esophageal achalasia

    PubMed Central

    Tsuboi, Kazuto; Omura, Nobuo; Yano, Fumiaki; Hoshino, Masato; Yamamoto, Se-Ryung; Akimoto, Shunsuke; Masuda, Takahiro; Kashiwagi, Hideyuki; Yanaga, Katsuhiko

    2015-01-01

    In general, the treatment methods for esophageal achalasia are largely classified into four groups, including drug therapy using nitrite or a calcium channel blocker, botulinum toxin injection, endoscopic therapy such as endoscopic balloon dilation, and surgery. Various studies have suggested that the most effective treatment of esophageal achalasia is surgical therapy. The basic concept of this surgical therapy has not changed since Heller proposed esophageal myotomy for the purpose of resolution of lower esophageal obstruction for the first time in 1913, but the most common approach has changed from open-chest surgery to laparoscopic surgery. Currently, the laparoscopic surgery has been the procedure of choice for the treatment of esophageal achalasia. During the process of the transition from open-chest surgery to laparotomy, to thoracoscopic surgery, and to laparoscopic surgery, the necessity of combining antireflux surgery has been recognized. There is some debate as to which type of antireflux surgery should be selected. The Toupet fundoplication may be the most effective in prevention of postoperative antireflux, but many medical institutions have selected the Dor fundoplication which covers the mucosal surface exposed by myotomy. Recently, a new endoscopic approach, peroral endoscopic myotomy (POEM), has received attention. Future studies should examine the long-term outcomes and whether POEM becomes the gold standard for the treatment of esophageal achalasia. PMID:26478674

  4. Per-oral endoscopic myotomy for achalasia: An American perspective

    PubMed Central

    Friedel, David; Modayil, Rani; Iqbal, Shahzad; Grendell, James H; Stavropoulos, Stavros N

    2013-01-01

    Achalasia is an uncommon esophageal motility disorder characterized by the selective loss of enteric neurons leading to absence of peristalsis and impaired relaxation of the lower esophageal sphincter. Per-oral endoscopic myotomy (POEM) is a novel modality for the treatment of achalasia performed by gastroenterologists and surgeons. It represents a natural orifice transluminal endoscopic surgery (NOTES) approach to Heller myotomy. POEM has the minimal invasiveness of an endoscopic procedure that can duplicate results of the surgical Heller myotomy. POEM is conceptually similar to a surgical myotomy without the inherent external incisions and post-operative care associated with surgery. Initial high success and low complications rates promise a great future for this technique. In fact, POEM has been successfully performed on patients with end-stage achalasia as an initial treatment reserving esophagectomy for those without good response. The volume of POEMs performed worldwide has grown exponentially. In fact, surgeons who have performed Heller myotomy have embraced POEM as the preferred intervention for achalasia. However, the niche of POEM remains to be defined and long term results are awaited. We describe our experience with POEM having performed the first POEM outside of Japan in 2009, the evolution of our technique, and give our perspective on its future. PMID:24044040

  5. Rare case of upper gastrointestinal bleeding in achalasia

    PubMed Central

    Zhang, Wei-Wei; Xie, Xiang-Jun; Geng, Chang-Xin; Zhan, Shu-Hui

    2015-01-01

    Achalasia is a prototypic esophageal motility disorder with complications including aspiration-pneumonia, esophagitis, esophageal-tracheal fistula, spontaneous rupture of the esophagus, and squamous cell carcinoma. However, achalasia is rarely associated with esophageal stones and ulcer formation that lead to upper gastrointestinal bleeding. Here, we report the case of a 61-year-old woman who was admitted to our department after vomiting blood for six hours. Physical examination revealed that the patient had severe anemia and mild palpitation in the upper abdomen. CT revealed lower esophageal dilatation and esophageal wall thickening, and an emergency upper endoscopy showed that the esophagus was substantially expanded by a dark round stone, with multiple ulcers on the esophageal wall and a slit in the cardiac mucosa with a large clot attached. The patient’s history included ingestion of 1 kg hawthorn three days prior. The acute upper gastrointestinal bleeding was caused by Mallory-Weiss syndrome associated with achalasia and an esophageal stone. For patients with achalasia, preventing excessive ingestion of tannins is crucial to avoid complications such as bleeding and rupture. PMID:25789307

  6. Clinical management of achalasia: current state of the art

    PubMed Central

    Krill, Joseph T; Naik, Rishi D; Vaezi, Michael F

    2016-01-01

    Achalasia is a primary disorder of esophageal motility. It classically presents with dysphagia to both solids and liquids but may be accompanied by regurgitation and chest pain. The gold standard for the diagnosis of achalasia is esophageal motility testing with manometry, which often reveals aperistalsis of the esophageal body and incomplete lower esophageal sphincter relaxation. The diagnosis is aided by complimentary tests, such as esophagogastroduodenoscopy and contrast radiography. Esophagogastroduodenoscopy is indicated to rule out mimickers of the disease known as “pseudoachalasia” (eg, malignancy). Endoscopic appearance of a dilated esophagus with retained food or saliva and a puckered lower esophageal sphincter should raise suspicion for achalasia. Additionally, barium esophagography may reveal a dilated esophagus with a distal tapering giving it a “bird’s beak” appearance. Multiple therapeutic modalities aid in the management of achalasia, the decision of which depends on operative risk factors. Conventional treatments include medical therapy, botulinum toxin injection, pneumatic dilation, and Heller myotomy. The last two are defined as the most definitive treatment options. New emerging therapies include peroral endoscopic myotomy, placement of self-expanding metallic stents, and endoscopic sclerotherapy. PMID:27110134

  7. Achalasia in a sixty-four-year-old man.

    PubMed

    Komisaruk, E A; Seymour, N E

    1998-01-01

    Achalasia is an esophageal motility disorder characterized by increased lower esophageal sphincter pressure and absence of peristalsis in the lower esophagus. Patients typically present with complaints of progressive difficulty swallowing over a period of several years. Diagnosis is confirmed by esophageal manometry. Complications of achalasia include esophagitis, aspiration and possibly an increased risk of esophageal carcinoma. Medical treatment options include pneumatic dilatation, esophageal bougienage, nitrates, calcium channel blockers and botulinum toxin injections. The primary method of surgical treatment is the Heller myotomy, in which longitudinal incisions are made in the muscle fibers of the lower esophageal sphincter to reduce sphincter pressure. Frequently, a fundoplication is performed in addition to the myotomy to decrease the likelihood of development of gastroesophageal reflux. In recent years, the Heller myotomy has been performed both thoracoscopically and laparoscopically. An additional development has been the placement of an endoscope in the esophagus to provide transillumination during surgery; intraoperative endoscopy allows improved assessment of the depth of myotomy incisions and reduces the risk of esophageal perforation. The case report below describes a 64-year-old-man with achalasia who presented with persistent dysphagia despite multiple attempts at medical treatment. A laparoscopic Heller myotomy with Toupet fundoplication was performed with subsequent eradication of symptoms. A discussion of the epidemiology, etiology, clinical presentation, diagnosis and treatment of achalasia follows the case report.

  8. Clinical management of achalasia: current state of the art.

    PubMed

    Krill, Joseph T; Naik, Rishi D; Vaezi, Michael F

    2016-01-01

    Achalasia is a primary disorder of esophageal motility. It classically presents with dysphagia to both solids and liquids but may be accompanied by regurgitation and chest pain. The gold standard for the diagnosis of achalasia is esophageal motility testing with manometry, which often reveals aperistalsis of the esophageal body and incomplete lower esophageal sphincter relaxation. The diagnosis is aided by complimentary tests, such as esophagogastroduodenoscopy and contrast radiography. Esophagogastroduodenoscopy is indicated to rule out mimickers of the disease known as "pseudoachalasia" (eg, malignancy). Endoscopic appearance of a dilated esophagus with retained food or saliva and a puckered lower esophageal sphincter should raise suspicion for achalasia. Additionally, barium esophagography may reveal a dilated esophagus with a distal tapering giving it a "bird's beak" appearance. Multiple therapeutic modalities aid in the management of achalasia, the decision of which depends on operative risk factors. Conventional treatments include medical therapy, botulinum toxin injection, pneumatic dilation, and Heller myotomy. The last two are defined as the most definitive treatment options. New emerging therapies include peroral endoscopic myotomy, placement of self-expanding metallic stents, and endoscopic sclerotherapy. PMID:27110134

  9. Data analyses and perspectives on laparoscopic surgery for esophageal achalasia.

    PubMed

    Tsuboi, Kazuto; Omura, Nobuo; Yano, Fumiaki; Hoshino, Masato; Yamamoto, Se-Ryung; Akimoto, Shunsuke; Masuda, Takahiro; Kashiwagi, Hideyuki; Yanaga, Katsuhiko

    2015-10-14

    In general, the treatment methods for esophageal achalasia are largely classified into four groups, including drug therapy using nitrite or a calcium channel blocker, botulinum toxin injection, endoscopic therapy such as endoscopic balloon dilation, and surgery. Various studies have suggested that the most effective treatment of esophageal achalasia is surgical therapy. The basic concept of this surgical therapy has not changed since Heller proposed esophageal myotomy for the purpose of resolution of lower esophageal obstruction for the first time in 1913, but the most common approach has changed from open-chest surgery to laparoscopic surgery. Currently, the laparoscopic surgery has been the procedure of choice for the treatment of esophageal achalasia. During the process of the transition from open-chest surgery to laparotomy, to thoracoscopic surgery, and to laparoscopic surgery, the necessity of combining antireflux surgery has been recognized. There is some debate as to which type of antireflux surgery should be selected. The Toupet fundoplication may be the most effective in prevention of postoperative antireflux, but many medical institutions have selected the Dor fundoplication which covers the mucosal surface exposed by myotomy. Recently, a new endoscopic approach, peroral endoscopic myotomy (POEM), has received attention. Future studies should examine the long-term outcomes and whether POEM becomes the gold standard for the treatment of esophageal achalasia. PMID:26478674

  10. The Pathogenesis and Management of Achalasia: Current Status and Future Directions

    PubMed Central

    Ates, Fehmi; Vaezi, Michael F.

    2015-01-01

    Achalasia is an esophageal motility disorder that is commonly misdiagnosed initially as gastroesophageal reflux disease. Patients with achalasia often complain of dysphagia with solids and liquids but may focus on regurgitation as the primary symptom, leading to initial misdiagnosis. Diagnostic tests for achalasia include esophageal motility testing, esophagogastroduodenoscopy and barium swallow. These tests play a complimentary role in establishing the diagnosis of suspected achalasia. High-resolution manometry has now identified three subtypes of achalasia, with therapeutic implications. Pneumatic dilation and surgical myotomy are the only definitive treatment options for patients with achalasia who can undergo surgery. Botulinum toxin injection into the lower esophageal sphincter should be reserved for those who cannot undergo definitive therapy. Close follow-up is paramount because many patients will have a recurrence of symptoms and require repeat treatment. PMID:26087861

  11. Longitudinal Muscle Dysfunction in Achalasia Esophagus and Its Relevance

    PubMed Central

    Hong, Su Jin; Bhargava, Valmik

    2013-01-01

    Muscularis propria of the esophagus is organized into circular and longitudinal muscle layers. Goal of this review is to summarize the role of longitudinal muscle in physiology and pathophysiology of esophageal sensory and motor function. Simultaneous manometry and ultrasound imaging that measure circular and longitudinal muscle contraction respectively reveal that during peristalsis 2 layers of the esophagus contract in perfect synchrony. On the other hand, during transient relaxation of the lower esophageal sphincter (LES), longitudinal muscle contracts independently of circular muscle. Recent studies provide novel insights, i.e., longitudinal muscle contraction of the esophagus induces LES relaxation and possibly descending relaxation of the esophagus. In achalasia esophagus and other motility disorders there is discoordination between the 2 muscle layers. Longitudinal muscle contraction patterns are different in the recently described three types of achalasia identified by high-resolution manometry. Robust contraction of the longitudinal muscle in type II achalasia causes pan-esophageal pressurization and is the mechanism of whatever little esophageal emptying that take place in the absence of peristalsis and impaired LES relaxation. It may be that preserved longitudinal muscle contraction is also the reason for superior outcome to medical/surgical therapy in type II achalasia esophagus. Prolonged contractions of longitudinal muscles of the esophagus is a possible mechanism of heartburn and "angina like" pain seen in esophageal motility disorders and possibly achalasia esophagus. Novel techniques to record longitudinal muscle contraction are on the horizon. Neuro-pharmacologic control of circular and longitudinal muscles is different, which provides an important opportunity for the development of novel pharmacological therapies to treat sensory and motor disorders of the esophagus. PMID:23667744

  12. Robotic heller myotomy and Dor fundoplication for achalasia in a woman with morbid obesity.

    PubMed

    Bedirli, Abdulkadir; Dogan, Ibrahim; Kozan, Ramazan

    2012-12-01

    Achalasia is a relatively rare condition with a prevalence estimated at less than 0.001 %. Laparoscopic or robotic Heller myotomy is an effective surgical treatment for achalasia. We present the first published case of a morbidly obese achalasia patient treated with robotic Heller myotomy and Dor fundoplication. The operative time was 175 min, with an estimated blood loss of 110 ml. The patient had a normal bowel transit on postoperative day 2, and he was discharged on postoperative day 4 on a liquid diet. A follow-up at 2 months showed significant resolved symptoms of achalasia. PMID:27628481

  13. Bilateral adrenal hemorrhage in polycythemia vera.

    PubMed

    Bhandari, Shruti; Agito, Katrina; Krug, Esther I

    2016-01-01

    Bilateral adrenal hemorrhage (BAH) is a rare complication typically seen in critically ill patients, which can lead to acute adrenal insufficiency and death unless it is recognized promptly and treated appropriately. We describe the case of a 64-year-old man with polycythemia vera found to be unresponsive with fever, hypotension, tachycardia, and hypoglycemia. Electrocardiogram showed ST-elevation with elevated troponin, hemoglobin, prothrombin time, and partial thromboplastin time. He required aggressive ventilator and vasopressor support. Despite primary coronary intervention, he remained hypotensive. Random cortisol level was low. He received stress dose hydrocortisone with immediate hemodynamic stability. BAH was highly suspected and was confirmed by non-contrast abdominal computed tomography. Prompt recognition and timely initiated treatment remain crucial to impact the mortality associated with acute adrenal insufficiency. PMID:27609733

  14. Bilateral adrenal hemorrhage in polycythemia vera

    PubMed Central

    Agito, Katrina; Krug, Esther I.

    2016-01-01

    Bilateral adrenal hemorrhage (BAH) is a rare complication typically seen in critically ill patients, which can lead to acute adrenal insufficiency and death unless it is recognized promptly and treated appropriately. We describe the case of a 64-year-old man with polycythemia vera found to be unresponsive with fever, hypotension, tachycardia, and hypoglycemia. Electrocardiogram showed ST-elevation with elevated troponin, hemoglobin, prothrombin time, and partial thromboplastin time. He required aggressive ventilator and vasopressor support. Despite primary coronary intervention, he remained hypotensive. Random cortisol level was low. He received stress dose hydrocortisone with immediate hemodynamic stability. BAH was highly suspected and was confirmed by non-contrast abdominal computed tomography. Prompt recognition and timely initiated treatment remain crucial to impact the mortality associated with acute adrenal insufficiency. PMID:27609733

  15. Per-oral endoscopic myotomy (POEM) for esophageal achalasia.

    PubMed

    Pescarus, Radu; Shlomovitz, Eran; Swanstrom, Lee L

    2014-01-01

    Per-oral endoscopic myotomy (POEM) is a new minimally invasive endoscopic treatment for achalasia. Since the first modern human cases were published in 2008, around 2,000 cases have been performed worldwide. This technique requires advanced endoscopic skills and a learning curve of at least 20 cases. POEM is highly successful with over 90 % improvement in dysphagia while offering patients the advantage of a low impact endoscopic access. The main long-term complication is gastroesophageal reflux (GER) with an estimated incidence of 35 %, similar to the incidence of GER post-laparoscopic Heller with fundoplication. Although POEM represents a paradigm shift in the treatment of achalasia, more long-term data are clearly needed to further define its role in the treatment algorithm of this rare disease. PMID:24362953

  16. The clinical manifestations, diagnosis, and treatment of adrenal emergencies.

    PubMed

    Tucci, Veronica; Sokari, Telematé

    2014-05-01

    Emergency medicine physicians should be able to identify and treat patients whose clinical presentations, including key historical, physical examination, and laboratory findings are consistent with diagnoses of primary, secondary, and tertiary adrenal insufficiency, adrenal crisis, and pheochromocytoma. Failure to make a timely diagnosis leads to increased morbidity and mortality. As great mimickers, adrenal emergencies often present with a constellation of nonspecific signs and symptoms that can lead even the most diligent emergency physician astray. The emergency physician must include adrenal emergencies in the differential diagnosis when encountering such clinical pictures.

  17. Training in peroral endoscopic myotomy (POEM) for esophageal achalasia

    PubMed Central

    Eleftheriadis, Nicholas; Inoue, Haruhiro; Ikeda, Haruo; Onimaru, Manabu; Yoshida, Akira; Hosoya, Toshihisa; Maselli, Roberta; Kudo, Shin-ei

    2012-01-01

    Peroral endoscopic myotomy (POEM) has been developed in the context of natural orifice transluminal endoscopic surgery (NOTES) as a minimally invasive endoscopic treatment for symptomatic esophageal achalasia, which is a chronic progressive benign disease with severe morbidity and difficult management. Since September 2008, POEM has been successfully performed in more than 200 consecutive patients with symptomatic achalasia at the Digestive Disease Center of Showa University, Northern Yokohama Hospital, Yokohama, Japan, with excellent short- and long-term results and absence of serious complications. International experience of POEM within clinical studies is also promising. According to these results, POEM is considered as a safe procedure that can be applied to all achalasia patients. However, the low incidence of achalasia (0.3%–1% per 100,000 population), in combination with the potential serious complications related to the technically demanding POEM procedure, has made training difficult. There is therefore an urgent need for an animal model for training to decrease the learning curve. Further, there are other ethical and training issues to address. The pig is the most appropriate animal model for training in POEM due to its anatomy being similar to that of humans. The porcine esophagus has the advantage of easy mobilization due to absence of tight junctions to surrounding organs. A non-survival porcine model would be a simple, inexpensive, and reproducible animal model for training in POEM, without the need for concern about complications. A possible training process might first involve observation of POEM performed by specialists, then training on non-survival and survival porcine models, followed by training in humans under specialist guidance and finally, performance of POEM in humans. PMID:22888256

  18. Per Oral Endoscopic Myotomy in Children with Achalasia Cardia

    PubMed Central

    Nabi, Zaheer; Ramchandani, Mohan; Reddy, D Nageshwar; Darisetty, Santosh; Kotla, Rama; Kalapala, Rakesh; Chavan, Radhika

    2016-01-01

    Background/Aims Achalasia cardia (AC) is a motility disorder, characterized by impaired lower esophageal sphincter relaxation and absence of esophageal peristalsis. AC is rare in children with unclear optimum management strategies. Per oral endoscopic myotomy (POEM) is a novel technique for management of achalasia with encouraging results in adult patients. The efficacy and safety of POEM is not known for pediatric AC. The aim of our study was to evaluate the safety and efficacy of POEM in children with achalasia cardia Methods The data of all children (< 18 years) who underwent POEM at our center was retrospectively analysed. Symptoms were analysed using a validated score (Eckardt score) at regular predefined intervals. Objective parameters including high-resolution manometry, timed barium swallow and esophagogastroduodenoscopy were assessed before the procedure and at 1-year follow-up. Clinical success was defined as an Eckardt score ≤ 3. Results A total of 15 children underwent POEM during the specified period. Ten out of 15 (10/15) completed 1-year follow-up. Median operative time was 100 (38–240) minutes. Mean pre and post procedure LES pressure were 36.64 ± 11.08 mmHg and 15.65 ± 5.73 mmHg, respectively (P = 0.001). Mean Eckardt score before and after the POEM was 7.32 ± 1.42 and 1.74 ± 0.67, respectively (P = 0.001). Mean percentage improvement in barium emptying at 5 minutes was 63.70 ± 4.46%. All children had complete resolution of symptoms at 1 year. Median weight gain of children at 1 year was 0.65 kg (range, 0.0–4.6). Conclusions POEM is safe and effective for children and adolescents with achalasia. Future trials with larger sample size are warranted to establish its efficacy in pediatric AC. PMID:27048658

  19. Hospitalization for esophageal achalasia in the United States

    PubMed Central

    Molena, Daniela; Mungo, Benedetto; Stem, Miloslawa; Lidor, Anne O

    2015-01-01

    AIM: To assess the outcome of different treatments in patients admitted for esophageal achalasia in the United States. METHODS: This is a retrospective analysis using the Nationwide Inpatient Sample over an 8-year period (2003-2010). Patients admitted with a primary diagnosis of achalasia were divided into 3 groups based on their treatment: (1) Group 1: patients who underwent Heller myotomy during their hospital stay; (2) Group 2: patients who underwent esophagectomy; and (3) Group 3: patients not undergoing surgical treatment. Primary outcome was in-hospital mortality. Secondary outcomes included length of stay (LOS), discharge destination and total hospital charges. RESULTS: Among 27141 patients admitted with achalasia, nearly half (48.5%) underwent Heller myotomy, 2.5% underwent esophagectomy and 49.0% had endoscopic or other treatment. Patients in group 1 were younger, healthier, and had the lowest mortality when compared with the other two groups. Group 2 had the highest LOS and hospital charges among all groups. Group 3 had the highest mortality (1.2%, P < 0.001) and the lowest home discharge rate (78.8%) when compared to the other groups. The most frequently performed procedures among group 3 were esophageal dilatation (25.9%) and injection (13.3%). Among patients who died in this group the most common associated morbidities included acute respiratory failure, sepsis and aspiration pneumonia. CONCLUSION: Surgery for achalasia carries exceedingly low mortality in the modern era; however, in complicated patients, even less invasive treatments are burdened by significant mortality and morbidity. PMID:26421106

  20. Laparoscopic esophagomyotomy for achalasia in children: A review

    PubMed Central

    Pandian, T Kumar; Naik, Nimesh D; Fahy, Aodhnait S; Arghami, Arman; Farley, David R; Ishitani, Michael B; Moir, Christopher R

    2016-01-01

    Esophageal achalasia in children is rare but ultimately requires endoscopic or surgical treatment. Historically, Heller esophagomyotomy has been recommended as the treatment of choice. The refinement of minimally invasive techniques has shifted the trend of treatment toward laparoscopic Heller myotomy (LHM) in adults and children with achalasia. A review of the available literature on LHM performed in patients < 18 years of age was conducted. The pediatric LHM experience is limited to one multi-institutional and several single-institutional retrospective studies. Available data suggest that LHM is safe and effective. There is a paucity of evidence on the need for and superiority of concurrent antireflux procedures. In addition, a more complete portrayal of complications and long-term (> 5 years) outcomes is needed. Due to the infrequency of achalasia in children, these characteristics are unlikely to be defined without collaboration between multiple pediatric surgery centers. The introduction of peroral endoscopic myotomy and single-incision techniques, continue the trend of innovative approaches that may eventually become the standard of care. PMID:26839646

  1. Treatment of achalasia in the era of high-resolution manometry

    PubMed Central

    Torresan, Francesco; Ioannou, Alexandros; Azzaroli, Francesco; Bazzoli, Franco

    2015-01-01

    Esophageal achalasia is a primary motility disorder characterized by impaired lower esophageal sphincter relaxation and absence of esophageal peristalsis leading to impaired bolus transit, manifested with symptoms such as dysphagia, regurgitation, retrosternal pain, and weight loss. The standard diagnostic tool is esophageal manometry which demonstrates incomplete relaxation of the lower esophageal sphincter and impaired esophageal peristalsis. Recently, a new advanced technique, high-resolution manometry (HRM) with the addition of pressure topography plotting, using multiple sensors to capture the manometric data as a spatial continuum, allows a detailed pressure recording of the esophageal motility. This technique, currently the gold standard for the diagnosis of achalasia, has led to a subclassification of three manometric types that seem to have different responsiveness to treatment. Because its pathogenesis is as yet unknown, achalasia treatment options are not curative. Type II achalasia patients respond better to treatment compared to those with types I and III. Low-risk patients with type I or II achalasia have good outcome with both graded pneumatic dilatations and laparoscopic Heller myotomy, while type III achalasia patients respond better to laparoscopic Heller myotomy. Although, type III achalasia patients responds less in comparison to types I and II to laparoscopic Heller myotomy. Peroral endoscopic myotomy is a promising new technique but long-term follow-up studies for its safety and efficacy must be performed. This article reviews the current therapeutic options, highlighting the impact of HRM to predict the outcome and the new insights for the treatment of achalasia. PMID:26130022

  2. Spontaneous esophageal perforation in a patient with achalasia cardia and rheumatoid arthritis.

    PubMed

    Banait, Vaibhav S; Sandur, Veerendra; Murugesh, M; Ramesh, S V; Sawak, Jasmina; Gwalani, A K; Amarapurkar, Anjali D; Bhatia, Shobna J

    2006-01-01

    Perforation of stasis ulcers in achalasia cardia has not been reported in literature. We report a 45-year-old lady with achalasia and rheumatoid arthritis who developed perforation and esophago-mediastinal sinus at the site of stasis ulcers. She succumbed to respiratory infection after resection of the sinus tract, Heller's cardiomyotomy, cervical esophagostomy and feeding jejunostomy.

  3. Achalasia in Korea: an epidemiologic study using a national healthcare database.

    PubMed

    Kim, Eunkyung; Lee, Hongsub; Jung, Hye-Kyung; Lee, Kwang Jae

    2014-04-01

    Owing to the rarity of the disease, epidemiologic information on achalasia is limited. This study aimed to investigate the epidemiology and treatment patterns of achalasia in the population of Korea using a national healthcare database. The diagnostic code K22.0 of the International Classification of Diseases was used to identify cases of achalasia between 2007 and 2011. Treatment modalities for achalasia were identified using the electronic data interchange codes Q7642 or Q7641 for balloon dilation and QA421 or QA422 for esophago-cardiomyotomy. A total of 3,105 patients with achalasia (1,447 men; mean age, 52.5 yr) were identified between 2007 and 2011, indicating a prevalence of 6.29/100,000 (95% confidence interval [CI], 4.94-7.66) during this 5-yr period. A total of 191 incident cases of achalasia (82 men; mean age, 49.5 yr), which were not diagnosed as achalasia in the previous 4 yr, were detected in 2011, indicating an incidence of 0.39/100,000 (95% CI, 0.15-0.63) for that year. During the study period, balloon dilation therapy was performed a total of 975 times in 719 patients, and surgical esophago-cardiomyotomy was performed once per patient in 17 patients. This is the first population-based epidemiologic study of achalasia in Korea. PMID:24753707

  4. Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita

    PubMed Central

    Chung, Stephanie T.; Chi, Carolyn H.; Haymond, Morey W.; Jeha, George S.

    2015-01-01

    Context X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically present in early infancy with adrenal insufficiency and growth is usually normal once medical therapy is instituted. Here we report the first case of growth hormone deficiency in an infant with AHC and a novel NROB1 missense mutation. Case A two-week old infant presented with salt-losing adrenal crises and a normal newborn screen. Tests of adrenal function confirmed adrenal hypoplasia congenita and molecular evaluation revealed a novel missense NROB1 mutation. Replacement steroid therapy was promptly initiated, but he subsequently developed growth failure despite optimal nutritional and medical steroid therapy. Further biochemical analyses confirmed isolated idiopathic growth hormone deficiency. Conclusions Growth failure in adequately treated infants with adrenal hypoplasia congenita is rare and the role of DAX-1 in the development of pituitary somatotropes is not known. There is variable genotype-phenotype correlation in X-linked adrenal hypoplasia congenita but novel NROB1 missense mutations could offer insight into the function of the various DAX-1 ligand-binding domains. PMID:27110597

  5. Self-medication of achalasia with cannabis, complicated by a cannabis use disorder

    PubMed Central

    Luquiens, Amandine; Lourenco, Nelson; Benyamina, Amine; Aubin, Henri-Jean

    2015-01-01

    Achalasia is a rare esophagus motility disorder. Medical, endoscopic and surgical treatments are available, but all endorse high relapse rates. No data has been published to date reporting a therapeutic effect of cannabis use neither in achalasia nor on its influence on manometric measurements. We report the case of a patient diagnosed with achalasia. He could benefit from a large panel of therapeutic interventions, but none of them was effective over the time. He first used cannabis at age 20 and identified benefits regarding achalasia symptoms. He maintained regular moderate cannabis use for 9 years, with minimal digestive inconvenience. A manometry performed without cannabis premedication was realized at age 26 and still found a cardiospasm. Cannabis use could explain the gap between functional symptoms assessment and manometry measurement. Further investigations are warranted to explore a therapeutic effect of cannabis in achalasia and possible influence on outcome measurements. PMID:26034374

  6. Self-medication of achalasia with cannabis, complicated by a cannabis use disorder.

    PubMed

    Luquiens, Amandine; Lourenco, Nelson; Benyamina, Amine; Aubin, Henri-Jean

    2015-05-28

    Achalasia is a rare esophagus motility disorder. Medical, endoscopic and surgical treatments are available, but all endorse high relapse rates. No data has been published to date reporting a therapeutic effect of cannabis use neither in achalasia nor on its influence on manometric measurements. We report the case of a patient diagnosed with achalasia. He could benefit from a large panel of therapeutic interventions, but none of them was effective over the time. He first used cannabis at age 20 and identified benefits regarding achalasia symptoms. He maintained regular moderate cannabis use for 9 years, with minimal digestive inconvenience. A manometry performed without cannabis premedication was realized at age 26 and still found a cardiospasm. Cannabis use could explain the gap between functional symptoms assessment and manometry measurement. Further investigations are warranted to explore a therapeutic effect of cannabis in achalasia and possible influence on outcome measurements.

  7. Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

    PubMed Central

    Turcu, Adina F.; Auchus, Richard J.

    2015-01-01

    Synopsis Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids, glucocorticoids and adrenal androgens occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive enzymatic defects in cortisol biosynthesis. 21-hydroxylase (21OHD) deficiency accounts for over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD. PMID:26038201

  8. How Is Adrenal Surgery Performed?

    MedlinePlus

    HOME ADRENAL GLANDS Background Where are the adrenal glands? What do the adrenal glands do? Is this adrenal tumor a genetic problem? Primary hyperaldosteronism (aldosterone-producing tumor) What is primary hyperaldosteronism? Signs ...

  9. Primary Non Hodgkin’s Lymphoma of Left Adrenal Gland – A Rare Presentation

    PubMed Central

    Kaur, Paramjeet; Chauhan, Ashok K; Kataria, Sant Parkash; Bansal, Nupur

    2015-01-01

    Primary adrenal lymphoma is rare and constitutes for 3% of extranodal lymphoma cases. Approximately 70% of patients present with bilateral disease and have adrenal insufficiency. Prognosis of primary adrenal lymphoma (PAL) is poor, most of patient die within one year of diagnosis. Moreover, there are no standard treatment protocols on such cases. Patients are generally treated with regimens similar to other nonhodgkin lymphoma which includes surgery, combination chemotherapy and or radiotherapy. We are presenting a successfully treated case of primary diffuse large B cell non Hodgkin lymphoma of adrenal gland in a 57-year-old patient. The patient had unilateral adrenal involvement (left adrenal gland), without adrenal insufficiency and normal Serum lactate dehyrogenase level. The patient was treated with left adrenalectomy followed by combination chemotherapy. Two years after diagnosis and treatment the patient is disease free on clinical and imaging studies. PMID:26023630

  10. The first simultaneous kidney-adrenal gland-pancreas transplantation: outcome at 1 year.

    PubMed

    Vouillarmet, J; Buron, F; Houzard, C; Carlier, M C; Chauvet, C; Brunet, M; Thivolet, C; Morelon, E; Badet, L

    2013-07-01

    Adrenal insufficiency is a rare but life-threatening disease. Replacement therapy sometimes fails to prevent an acute adrenal crisis and most often does not lead to restoration of well-being. We report here the 1-year outcome of the first simultaneous kidney-adrenal gland-pancreas transplantation in a 33-year-old patient with type 1 diabetes and concomitant autoimmune adrenal insufficiency. En bloc left adrenal gland and kidney grafts were anastomosed on the left iliac vessels in normal vascular conditions and the pancreas graft was anastomosed on the right iliac vessels. The immunosuppressive regimen was not modified by the addition of the adrenal gland. We observed no additional morbidity due to the adrenal gland transplantation, as there were no surgical complications. One-year kidney and pancreas graft functions were satisfactory (estimated glomerular filtration rate: 55 mL/min/1.73 m(2) and HbA1c: 4.8%). The adrenal graft functioned well at 12 months with a normalization of cortisol and aldosterone baseline levels. Functional imaging at 3 months showed good uptake of [(123) I]-metaiodobenzylguanidine by the adrenal graft. Transplantation of the adrenal gland en bloc with the left kidney appears to be a good therapeutic option in patients with adrenal insufficiency awaiting kidney or kidney-pancreas transplantation.

  11. Laparoscopic Adrenal Gland Removal

    MedlinePlus

    ... adrenal tumors that appear malignant. What are the Advantages of Laparoscopic Adrenal Gland Removal? In the past, ... of procedure and the patients overall condition. Common advantages are: Less postoperative pain Shorter hospital stay Quicker ...

  12. Adrenal Gland Disorders

    MedlinePlus

    The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live ... stress and has many other important functions. With adrenal gland disorders, your glands make too much or not ...

  13. Adrenal Gland Cancer

    MedlinePlus

    ... either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are ... and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include Adrenocortical carcinoma - ...

  14. High-resolution manometry in diagnosis and treatment of achalasia: help or hype.

    PubMed

    Richter, Joel E

    2014-12-01

    High-resolution manometry (HRM) with 36 pressure transducers spanning the esophagus has revolutionized the diagnosis and treatment of esophageal motility disorders, especially with respect to achalasia. The three major contributions of HRM are as follows: (a) Integrated relaxation pressure (IRP) at the esophagus gastric junction (EGJ) >15 mmHg has a sensitivity of 97 % for the diagnosis of achalasia; (b) there are three distinct subtypes of achalasia - type 1 (no distal pressurization), type II (panesophageal pressurization), and type III (spastic contractions); and (c) subtypes predict the success of treatment with type II patients doing the best and type III being the most difficult to treat. Recent studies also suggest that HRM is superior to conventional manometry for diagnosis of achalasia. Other useful observation from HRM is the recognition of EGJ outflow obstruction (type IV achalasia) with normal peristalsis which may be due to mechanical or functional impairment at the EGJ. Finally, after successful treatment of achalasia, the IRP falls to less than 15 mmHg and the achalasia pressurization pattern resolves sometimes with the return of weak peristalsis. This complements well with the information obtained by the timed barium esophagram.

  15. Adrenal imaging (Part 2): Medullary and secondary adrenal lesions

    PubMed Central

    Dhamija, Ekta; Panda, Ananya; Das, Chandan J.; Gupta, A. K.

    2015-01-01

    Adrenal malignancies can be either primary adrenal tumors or secondary metastases, with metastases representing the most common malignant adrenal lesion. While imaging cannot always clearly differentiate between various adrenal malignancies, presence of certain imaging features, in conjunction with appropriate clinical background and hormonal profile, can suggest the appropriate diagnosis. The second part of the article on adrenal imaging describes adrenal medullary tumors, secondary adrenal lesions, bilateral adrenal lesions, adrenal incidentalomas and provides an algorithmic approach to adrenal lesions based on current imaging recommendations. PMID:25593821

  16. The Spectrum of Achalasia: Lessons From Studies of Pathophysiology and High-Resolution Manometry

    PubMed Central

    Kahrilas, Peter J.; Boeckxstaens, Guy

    2013-01-01

    High-resolution manometry and recently described analysis algorithms, summarized in the Chicago Classification, have increased the recognition of achalasia. It has become apparent that the cardinal feature of achalasia, impaired lower esophageal sphincter relaxation, can occur in several disease phenotypes: without peristalsis, with premature (spastic) distal esophageal contractions, with panesophageal pressurization, or with peristalsis. Any of these phenotypes could indicate achalasia; however, without a disease-specific biomarker, no manometric pattern is absolutely specific. Laboratory studies indicate that achalasia is an autoimmune disease in which esophageal myenteric neurons are attacked in a cell-mediated and antibody-mediated immune response against an uncertain antigen. This autoimmune response could be related to infection of genetically predisposed subjects with herpes simplex virus 1, although there is substantial heterogeneity among patients. At one end of the spectrum is complete aganglionosis in patients with end-stage or fulminant disease. At the opposite extreme is type III (spastic) achalasia, which has no demonstrated neuronal loss but only impaired inhibitory postganglionic neuron function; it is often associated with accentuated contractility and could be mediated by cytokine-induced alterations in gene expression. Distinct from these extremes is progressive plexopathy, which likely arises from achalasia with preserved peristalsis and then develops into type II achalasia and then type I achalasia. Variations in its extent and rate of progression are likely related to the intensity of the cytotoxic T-cell assault on the myenteric plexus. Moving forward, we need to integrate the knowledge we have gained into treatment paradigms that are specific for individual phenotypes of achalasia and away from the one-size-fits-all approach. PMID:23973923

  17. Clinical Effect of Endoscopic Pneumatic Dilation for Achalasia

    PubMed Central

    Cheng, Peng; Shi, Hai; Zhang, Yanjie; Zhou, Huabang; Dong, Jinhua; Cai, Yiting; Hu, Xing; Dai, Qiang; Yang, Wenyan

    2015-01-01

    Abstract Although pneumatic dilation is an accepted method for the treatment of achalasia, this therapy has high recurrence and complication rates, and prolonged follow-up studies on the parameters associated with various outcomes are rare. In this prospective 10-year follow-up study, a satisfactory therapeutic effect was achieved without serious complications. We report the therapeutic experience with pneumatic dilation, having aimed to evaluate the long-term clinical safety and efficacy of pneumatic dilation. In total, 35 consecutive patients with idiopathic achalasia who underwent pneumatic dilation were followed up at regular intervals in person or by a phone interview over a 10-year period. The mean duration of the follow-up was 43.03 ± 26.34 months (range 6–120 months). Remission was assessed by the dysphagia classification and symptom scores. Patients’ clinical symptom scores were calculated before and at 6 to 36 months, 37 to 60 months, and >60 months after therapy. The influence of the patients’ age, gender, and disease duration on the therapeutic effect was analyzed. The success rate of the operation was 97.2% (35/36), without massive hemorrhaging, perforation or other serious complications. Dysphagia after the therapy was significantly eased (P < 0.01). In total, 35 patients have been followed up for 6 to 36 months after therapy, 21 cases for 37 to 60 months, and 5 cases for >60 months, and the patients’ symptom scores separately decreased significantly compared with the pretherapy scores (P < 0.01). For these patients, the 6 to 36 months remission rate was 85.7% (30/35), the 37 to 60 months rate was 61.9% (13/21), and the >60 months rate was 40% (2/5). The dilation effect had no relationship to the patient's age, gender, and disease duration (P > 0.05). The patients in 30 cases (85.7%) were successfully treated with a single dilation, in 4 cases (11.4%) with 2 dilations, and in 1 case (2.9%) with 3 dilations

  18. Achalasia: a risk factor that must not be forgotten for esophageal squamous cell carcinoma.

    PubMed

    Ríos-Galvez, Shareni; Meixueiro-Daza, Arturo; Remes-Troche, Jose Maria

    2015-01-01

    Alcohol and tobacco abuse are the main risk factors for esophageal squamous cell carcinoma (ESCC), but other conditions that induce chronic irritation of the esophageal mucosa have also been attributed to it. For example, long-standing achalasia increases 16 times the risk of developing ESCC. We report the case of a patient with long-standing achalasia who developed ESCC. Although this complication is infrequent, it should be remembered by clinicians who treat patients with achalasia to detect early stages cancer. PMID:25564630

  19. Management of primary achalasia: The role of endoscopy

    PubMed Central

    Luján-Sanchis, Marisol; Suárez-Callol, Patricia; Monzó-Gallego, Ana; Bort-Pérez, Inmaculada; Plana-Campos, Lydia; Ferrer-Barceló, Luis; Sanchis-Artero, Laura; Llinares-Lloret, María; Tuset-Ruiz, Juan Antonio; Sempere-Garcia-Argüelles, Javier; Canelles-Gamir, Pilar; Medina-Chuliá, Enrique

    2015-01-01

    Achalasia is an oesophageal motor disorder which leads to the functional obstruction of the lower oesophageal sphincter (LES) and is currently incurable. The main objective of all existing therapies is to achieve a reduction in the obstruction of the distal oesophagus in order to improve oesophageal transit, relieve the symptomatology, and prevent long-term complications. The most common treatments used are pneumatic dilation (PD) and laparoscopic Heller myotomy, which involves partial fundoplication with comparable short-term success rates. The most economic non-surgical therapy is PD, with botulinum toxin injections reserved for patients with a higher surgical risk for whom the former treatment option is unsuitable. A new technology is peroral endoscopic myotomy, postulated as a possible non-invasive alternative to surgical myotomy. Other endoluminal treatments subject to research more recently include injecting ethanolamine into the LES and using a temporary self-expanding metallic stent. At present, there is not enough evidence permitting a routine recommendation of any of these three novel methods. Patients must undergo follow-up after treatment to guarantee that their symptoms are under control and to prevent complications. Most experts are in favour of some form of endoscopic follow-up, however no established guidelines exist in this respect. The prognosis for patients with achalasia is good, although a recurrence after treatment using any method requires new treatment. PMID:26078828

  20. Early clinical experience with the POEM procedure for achalasia

    PubMed Central

    Hong, Dennis; Pescarus, Radu; Khan, Rana; Ambrosini, Luciano; Anvari, Mehran; Cadeddu, Margherita

    2015-01-01

    Background Per oral endoscopic myotomy (POEM) is a viable alternative to standard Heller myotomy for surgical treatment of achalasia. Outcomes from the United States, Europe and Asia have been reported. We sought to report data after the initiation of POEM in a Canadian centre. Methods We enrolled patients with achalasia in a research ethics board–approved pilot study. Surgeons learned the POEM procedure in a systematic manner that included visiting experts in POEM, practice in an animal laboratory and mentoring from POEM experts. Preoperative evaluation included manometry, 24-hour pH, barium swallow, endoscopy and Eckhardt Symptom Score. All patients underwent gastrograffin swallow on postoperative day 1. Patients were re-evaluated using the Eckhardt score on postoperative day 14. Results Ten patients underwent POEM. Seven patients had previous endoscopic treatments: 6 had balloon dilatation and 1 had botulinum toxin injection. Mean preoperative Eckhardt score was 8.1 ± 2.4. Mean preoperative lower esophageal sphincter resting and residual pressure was 32.3 ± 9.2 and 20.8 ± 5.3, respectively. Mean duration of surgery was 141.3 ± 43.7 minutes. Mean length of hospital stay was 1 day. No major perioperative complications occurred. On postoperative day 14, the mean Eckhardt score was 1 ± 1.2. Conclusion Our approach to POEM introduction was systematic and deliberate. The procedure is safe, feasible and has good perioperative outcomes. Our early results are consistent with current literature. PMID:26574830

  1. Peroral endoscopic myotomy: An emerging minimally invasive procedure for achalasia

    PubMed Central

    Vigneswaran, Yalini; Ujiki, Michael B

    2015-01-01

    Peroral endoscopic myotomy (POEM) is an emerging minimally invasive procedure for the treatment of achalasia. Due to the improvements in endoscopic technology and techniques, this procedure allows for submucosal tunneling to safely endoscopically create a myotomy across the hypertensive lower esophageal sphincter. In the hands of skilled operators and experienced centers, the most common complications of this procedure are related to insufflation and accumulation of gas in the chest and abdominal cavities with relatively low risks of devastating complications such as perforation or delayed bleeding. Several centers worldwide have demonstrated the feasibility of this procedure in not only early achalasia but also other indications such as redo myotomy, sigmoid esophagus and spastic esophagus. Short-term outcomes have showed great clinical efficacy comparable to laparoscopic Heller myotomy (LHM). Concerns related to postoperative gastroesophageal reflux remain, however several groups have demonstrated comparable clinical and objective measures of reflux to LHM. Although long-term outcomes are necessary to better understand durability of the procedure, POEM appears to be a promising new procedure. PMID:26468336

  2. Pharmacotherapy for the management of achalasia: Current status, challenges and future directions

    PubMed Central

    Nassri, Ammar; Ramzan, Zeeshan

    2015-01-01

    This article reviews currently available pharmacological options available for the treatment of achalasia, with a special focus on the role of botulinum toxin (BT) injection due to its superior therapeutic effect and side effect profile. The discussion on BT includes the role of different BT serotypes, better pharmacological formulations, improved BT injection techniques, the use of sprouting inhibitors, designer recombinant BT formulations and alternative substances used in endoscopic injections. The large body of ongoing research into achalasia and BT may provide a stronger role for BT injection as a form of minimally invasive, cost effective and efficacious form of therapy for patients with achalasia. The article also explores current issues and future research avenues that may prove beneficial in improving the efficacy of pharmacological treatment approaches in patients with achalasia. PMID:26558149

  3. Bilateral adrenal haemorrhagic infarction in a patient with antiphospholipid syndrome.

    PubMed

    Godfrey, Rebecca Louise; Clark, James; Field, Benjamin

    2014-11-19

    A 68-year-old woman with antiphospholipid syndrome presented with a 3-day history of bilateral loin pain, vomiting, fever and confusion. On examination she was febrile, hypotensive and tachycardic. Investigations revealed raised inflammatory markers, renal impairment and hyponatraemia. Abdominal ultrasound revealed two well-defined heterogeneous areas bilaterally in the region of the adrenal glands. This prompted serum cortisol measurement and a CT of the abdomen. Cortisol was low in the context of sepsis at 48 nmol/L, and CT confirmed bilateral heterogeneous adrenal pathology. The patient was managed for septic shock and adrenal insufficiency. She was recognised to have several risk factors for haemorrhagic infarction of the adrenals: antiphospholipid syndrome, sepsis, postoperative state and anticoagulant therapy. She was discharged well on glucocorticoid and mineralocorticoid therapy and a repeat CT at 4 weeks confirmed the diagnosis of bilateral adrenal infarct and haemorrhage.

  4. Intense Adrenal Enhancement: A CT Feature of Cardiogenic Shock.

    PubMed

    Hrabak-Paar, Maja

    2016-02-01

    In this report, images of intense adrenal enhancement in a 79-year-old female patient with right-sided heart failure and severe tricuspid insufficiency are presented. Only two cases of intense adrenal enhancement as a sign of cardiogenic shock were previously reported in the literature. Intense adrenal enhancement could be one of the earliest CT signs of cardiogenic shock. Its presence should be immediately reported to the referring physician as a sign of significant hemodynamic instability warranting early critical-care management.

  5. Safety and efficacy of botulinum toxin injection therapy for esophageal achalasia in Japan

    PubMed Central

    Yamaguchi, Daisuke; Tsuruoka, Nanae; Sakata, Yasuhisa; Shimoda, Ryo; Fujimoto, Kazuma; Iwakiri, Ryuichi

    2015-01-01

    Botulinum toxin injection is an accepted treatment modality for esophageal achalasia in western countries. This pilot study aimed to clarify the effectiveness of botulinum toxin injection for esophageal achalasia in Japanese patients. We enrolled 10 patients diagnosed with esophageal achalasia between 2008 and 2014. A total of 100 U botulinum toxin A was divided into eight aliquots and injected around the esophagogastric junction. We compared the lower esophageal sphincter pressure before and 1 week after treatment. Scores of subjective symptoms for esophageal achalasia were assessed using a visual analog scale (VAS) before and after 1 week of follow-up of treatment. Barium passage was improved in barium esophagography and passage of contrast agent was also improved. Mean Eckardt score was reduced from 5.5 to 1.6 after treatment (p<0.001). By esophageal manometric study, mean lower esophageal sphincter pressure was reduced from 46.9 to 29.1 mmHg after treatment (p = 0.002). One week after treatment, mean VAS score was reduced from 10 to 3.9 (p<0.001). There were no side effects in any cases. Botulinum toxin injection for esophageal achalasia was safe and effective with few complications. Therefore, botulinum toxin could be used as minimally invasive therapy for esophageal achalasia in Japan. PMID:26566311

  6. Hemorrhagic adrenal cyst.

    PubMed

    Cunningham, M D

    1993-05-01

    Adrenal cysts are uncommon. They may be fatal if they hemorrhage and are not rapidly diagnosed. Most adrenal cysts are small and asymptomatic. When they are symptomatic, it is usually because the cyst has enlarged, causing flank discomfort, gastrointestinal complaints, and hemorrhage. Occasionally, a palpable mass may be found. It is thought that hemorrhage occurs secondary to trauma or some toxic or infectious process. The author describes a case in which a previously healthy man had a sudden hemorrhage within a benign adrenal cyst with infarction of the kidney. A discussion of adrenal cysts follows.

  7. Perspective on Peroral Endoscopic Myotomy for Achalasia: Zhongshan Experience

    PubMed Central

    Li, Quan-Lin; Zhou, Ping-Hong

    2015-01-01

    Worldwide, peroral endoscopic myotomy (POEM) has achieved remarkable initial outcomes in the treatment of achalasia. In China, POEM has developed very quickly since the first case was performed in our center in August 2010. With experience, we have successfully performed POEM for special cases (such as pediatric patients, patients with sigmoid-type esophagus, and patients with recurrent symptoms after previous surgery) and have altered our technique to achieve long-term symptom remission and simplify the POEM procedure. These changes include posterior wall incision, full-thickness myotomy, a “push-and-pull” technique for myotomy, and water-jet assisted POEM. In this article, our experiences in POEM are summarized, including changes in technique, applications of the procedure, and the management of possible complications. PMID:25721002

  8. A Comparison of Symptom Severity and Bolus Retention to Chicago Classification Esophageal Pressure Topography Metrics in Patients with Achalasia

    PubMed Central

    Nicodème, Frédéric; de Ruigh, Annemijn; Xiao, Yinglian; Rajeswaran, Shankar; Teitelbaum, Ezra N.; Hungness, Eric S.; Kahrilas, Peter J.; Pandolfino, John E.

    2012-01-01

    Background & Aims We compared findings from timed barium esophagrams (TBEs) and esophageal pressure topography (EPT) studies among achalasia subtypes and in relation to symptom severity. Method We analyzed data from 50 patients with achalasia (31 male, 20–79 years old) who underwent high-resolution manometry (HRM), had TBE following a 200ml barium swallow, and completed questionnaires that determine Eckardt Scores (ES). Twenty-five were not treated and 25 were treated (11 by pneumatic dilation, 14 by myotomy). Non-parametric testing was used to assess differences among groups of treated patients (10 had type-1 achalasia and 15 had type-2 achalasia), and the Pearson correlation was used to assess their relationship. Results There were no significant differences in TBE measurements between patient groups. Of the 25 patients who received treatment, 10 had a manometric pattern consistent with persistent achalasia after treatment (6 with type 1 and 4 with type 2 achalasia), whereas 15 appeared to have resolved the achalasia pattern (peristalsis was absent in 8 and weak in 7). The height of the barium column at 5 minutes and ES were significantly reduced in patients that had resolved their achalasia pattern, based on HRM. The integrated relaxation pressure (IRP) and the TBE column height correlated at 5 minutes (r=0.422; p<0.05). Discussion Patients that resolve their achalasia pattern, based on HRM, demonstrated improved emptying based on TBE measurements and improved symptom scores. There was no significant difference between patients with type-1 or 2 achalasia in TBEs. These findings indicate that normalization of the IRP on HRM is a clinically relevant objective of treatment for achalasia. PMID:23078890

  9. Overview of molecular mechanisms in chagasic cardioneuromyopathy and achalasia.

    PubMed

    Sterin-Borda, L; Borda, E

    1999-01-01

    Evidence accumulated by our investigations over the years give adequate proof for the existence of circulating antibodies in Chagas disease which bind to beta adrenergic and muscarinic cholinergic receptor of myocardium. The interaction of agonist-like antibodies with neurotransmitter receptors, triggers in the cells intracellular signal transductions that alter the physiological behaviour of the target organs. These events convert the normal cells into pathologically active cells. The interaction of antibodies with heart beta adrenergic and cholinergic receptors triggers physiologic, morphologic, enzymatic and molecular alterations, leading to tissue damage. The analysis of the prevalence and distribution of these antibodies reveals a strong association with cardiac and esophageal autonomic dysfunction in seropositive patients in comparison with those without alteration of the heart and esophagus autonomic disorders: therefore, the presence of these antibodies may partially explain the cardiomyoneurophathy and achalasia of Chagas disease, in which the sympathetic and parasympathetic systems are affected. The deposit of autoantibodies behaving like an agonist on neurotransmitter receptors, induceds desensitization and/or down regulation of the receptors. This in turn, could lead to a progressive blockade of neurotransmitter receptors, with sympathetic and parasympathetic dennervation, a phenomenon that has been described during the course of Chagas cardioneuropathy and achalasia. The clinical relevance of these findings is the demonstration, using biomolecules, of a strong association between the existence of circulating autoantibodies against peptides corresponding to the second extracellular loop of the human heart beta, adrenoceptor and M2 cholinoceptor in chagasic patients, and the presence of dysautonomic symptoms, making these autoantibodies a proper early marker of heart and digestive autonomic dysfunction.

  10. A rare adrenal incidentaloma: adrenal schwannoma.

    PubMed

    Adas, Mine; Ozulker, Filiz; Adas, Gokhan; Koc, Bora; Ozulker, Tamer; Sahin, Ilknur Mansuroglu

    2013-01-01

    Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT) of the abdomen and [(18)F] fluorodeoxyglucose positron emission tomography (PET) were also performed. Metabolic evaluation was unremarkable. Due to the large size of the tumor, left adrenalectomy was performed. The postoperative course was uneventful. Histological examination established the diagnosis of schwannoma. This diagnosis was supported by immunohistochemistry of S-100 and vimentin positivity. In conclusion, adrenal schwannoma is an extremely rare entity and can grow considerably in size. The present case report emphasizes that clinicians should be aware of the possibility of retroperitoneal schwannoma. Total excision of benign schwannoma is associated with a favorable outcome. To our knowledge, there are case reports of schwannoma with CT and magnetic resonance imaging findings in the literature, although this is the first schwannoma case with PET-CT imaging. PMID:24403879

  11. A Rare Adrenal Incidentaloma: Adrenal Schwannoma

    PubMed Central

    Adas, Mine; Ozulker, Filiz; Adas, Gokhan; Koc, Bora; Ozulker, Tamer; Sahin, Ilknur Mansuroglu

    2013-01-01

    Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT) of the abdomen and [18F] fluorodeoxyglucose positron emission tomography (PET) were also performed. Metabolic evaluation was unremarkable. Due to the large size of the tumor, left adrenalectomy was performed. The postoperative course was uneventful. Histological examination established the diagnosis of schwannoma. This diagnosis was supported by immunohistochemistry of S-100 and vimentin positivity. In conclusion, adrenal schwannoma is an extremely rare entity and can grow considerably in size. The present case report emphasizes that clinicians should be aware of the possibility of retroperitoneal schwannoma. Total excision of benign schwannoma is associated with a favorable outcome. To our knowledge, there are case reports of schwannoma with CT and magnetic resonance imaging findings in the literature, although this is the first schwannoma case with PET-CT imaging. PMID:24403879

  12. Ultrasonographic evaluation of adrenal glands in dogs with primary hypoadrenocorticism or mimicking diseases.

    PubMed

    Wenger, M; Mueller, C; Kook, P H; Reusch, C E

    2010-08-01

    The adrenal glands of 30 dogs with primary adrenal insufficiency (hypoadrenocorticism) were measured ultrasonographically and compared with those of 14 healthy dogs and those of 10 dogs with diseases mimicking hypoadrenocorticism. Thickness and length of the adrenals were measured on abdominal ultrasonography and the results for each group were compared. Dogs with primary hypoadrenocorticism had significantly thinner adrenals compared with the other two groups, and their left adrenal glands were also significantly shorter than those of healthy dogs. Adrenal ultrasonography may be of diagnostic value in dogs with clinical signs suggestive of primary hypoadrenocorticism, as a left adrenal gland measuring less than 3.2 mm in thickness is strongly suggestive of the disease.

  13. The early efficacy of Heller myotomy in the treatment of Iranian patients with achalasia

    PubMed Central

    Abdi, Saeed; Forotan, Mojgan; Nikzamir, Abdolrahim; Zomorody, Saeedeh; Jahani-Sherafat, Somayeh

    2016-01-01

    Aim: The purpose of this study was to determine the efficacy of Heller myotomy for the treatment of achalasia in a referral center in Tehran, and investigate the clinical characteristics, manometric results and treatment responses among three achalasia subtypes in Iranian patients. Background: Esophageal achalasia is an unusual swallowing disorder, characterized by high pressure in the lower esophageal sphincter (LES) on swallowing, failure relaxation of the LES and the absence of peristalsis in esophageal. Patients and methods: In this cross sectional study, clinical symptom and esophageal manometry before and 2 months after treating with Heller myotomy in 20 patients with achalasia who were referred to Taleghani Hospital, Tehran, in 2013 were evaluated. Patients’ demographic, clinical features and response to treatment were analyzed using SPSS software (version 20, Chicago, IL, USA). Results: All the diagnostic criteria measured after the treatment were significantly different (P<0.05) before and after the therapy. The average decline in the length of the esophagus was 1.8 cm and dysphasia score was 7.25 units. Also an average decline in LES Resting Pressure, LES Residual Pressure, PIP, and IRP were 23.2 mmHg, 14.3 mmHg, 3.4 mmHg and 17.8 mmHg, respectively. Conclusion: Results of this study showed that the Heller myotomy is highly effective in relieving dysphasia in patients with achalasia. Also, type II achalasia is the most common subtype of achalasia with a better response to Heller myotomy compared to the other types. PMID:26744612

  14. Proteomic Identification of Proteins Suggestive of Immune-Mediated Response or Neuronal Degeneration in Serum of Achalasia Patients

    PubMed Central

    Im, Seon Kyo; Yeo, Mari

    2013-01-01

    Background/Aims The primary pathophysiologic abnormality in achalasia is known to be a loss of inhibitory myenteric ganglion cells, which may result from an immune-mediated response or neuronal degeneration. The aim of this study was to identify proteins suggestive of an immune-mediated response or neuronal degeneration in the serum of achalasia patients using a proteomic analysis. Methods Blood samples were collected from five symptomatic achalasia patients and five sex- and age-matched healthy controls. Serum proteomic analysis was conducted, and the protein spots were identified using matrix-assisted laser desorption ionization/time-of-flight and a proteomics analyzer. The serum level of C3 was measured by enzyme-linked immunosorbent assay in nine patients with achalasia and 18 sex- and age-matched healthy controls. Results Of the 658 matched protein spots, 28 spots were up-regulated over 2-fold in the serum from achalasia patients compared with that from controls. The up-regulated proteins included complement C4B5, complement C3, cyclin-dependent kinase 5, transthyretin, and alpha 2 macroglobulin. The serum levels of C3 in achalasia patients were significantly higher than those of controls. Conclusions The serum proteomic analysis of achalasia patients suggests an immune-mediated response or neuronal degeneration. Further validation studies in larger samples and the esophageal tissue of achalasia patients are required. PMID:23898380

  15. Adrenal and thyroid function in the fetus and preterm infant

    PubMed Central

    2014-01-01

    Adrenal and thyroid hormones are essential for the regulation of intrauterine homeostasis, and for the timely differentiation and maturation of fetal organs. These hormones play complex roles during fetal life, and are believed to underlie the cellular communication that coordinates maternal-fetal interactions. They serve to modulate the functional adaptation for extrauterine life during the perinatal period. The pathophysiology of systemic vasopressor-resistant hypotension is associated with low levels of circulating cortisol, a result of immaturity of hypothalamic-pituitary-adrenal axis in preterm infants under stress. Over the past few decades, studies in preterm infants have shown abnormal clinical findings that suggest adrenal or thyroid dysfunction, yet the criteria used to diagnose adrenal insufficiency in preterm infants continue to be arbitrary. In addition, although hypothyroidism is frequently observed in extremely low gestational age infants, the benefits of thyroid hormone replacement therapy remain controversial. Screening methods for congenital hypothyroidism or congenital adrenal hyperplasia in the preterm neonate are inconclusive. Thus, further understanding of fetal and perinatal adrenal and thyroid function will provide an insight into the management of adrenal and thyroid function in the preterm infant. PMID:25379042

  16. Diethylstilbestrol decreased adrenal cholesterol and corticosterone in rats.

    PubMed

    Haeno, Satoko; Maeda, Naoyuki; Yagi, Takeshi; Tahata, Sachi; Sato, Michiko; Sakaguchi, Kanako; Miyasho, Taku; Ueda, Hiromi; Yokota, Hiroshi

    2014-05-01

    The synthetic oestrogen diethylstilbestrol (DES), which is known to bind oestrogen receptors (ERs), has been reported to have adverse effects on endocrine homeostasis; however, the molecular mechanisms underlying these effects are poorly understood. In this study, we treated rats with DES and found high levels of this compound in the liver, adrenal glands and pituitary gland, as compared with other tissues. We have also detected early adverse effects of DES in the adrenal glands. The adrenal glands of rats treated with DES (340 μg/kg body weight every 2 days) for 2 weeks showed increased weight and size and a decreased fat droplet size. Following 1 week of treatment with DES, the blood and adrenal corticosterone levels were substantially decreased without any histological alterations. The levels of the precursors for corticosteroid biosynthesis in the adrenal glands were also decreased, as determined using mass spectroscopy. Cholesterol, the principal material of corticosteroid biosynthesis, decreased substantially in the adrenal glands after only 1 week of treatment with DES. In conclusion, cholesterol insufficiency results in a reduction in adrenal corticosterone biosynthesis, which may lead to endocrine dysfunction, such as reproductive toxicity.

  17. [Adrenal failure caused by primary adrenal non-Hodgkin lymphoma: a case report and review of the literature].

    PubMed

    Hernández Marín, B; Díaz Muñoz de la Espada, V M; Alvarez Alvarez, R; Encinas García, S; Khosravi Shahi, P; Pérez Fernández, R; Pérez Manga, G

    2008-03-01

    We report a case of 78-year old man who presented with symptoms of adrenal insufficiency. The computed tomography (CT) scan showed the presence of bilateral adrenal masses. A CT-scan guided needle biopsy revealed diffuse large- B cell lymphoma. The absence of pathological findings in clinical, bone marrow and CT scan examinations supported the diagnosis of primary non-Hodgkin Lymphoma of the adrenal glands. The patient was treated with four cycles of R-CHOP chemotherapy with Rituximab, liposomal Doxorubicin, Cyclophosphamide, Vincristine and Prednisolone. At the end of fourth cycle there was radiological improvement but the chemotherapy was stopped because of IV grade toxicity. He completed treatment with radiotherapy of right adrenal mass. Few days after finishing radiation therapy the patient died due to a disseminated infection. No progressive disease was founded.

  18. Childhood achalasia: A comprehensive review of disease, diagnosis and therapeutic management

    PubMed Central

    Franklin, Ashanti L; Petrosyan, Mikael; Kane, Timothy D

    2014-01-01

    Achalasia is an esophageal motility disorder characterized by failure of lower esophageal sphincter (LES) relaxation and is rare in children. The most common symptoms are vomiting, dysphagia, regurgitation, and weight loss. Definitive diagnosis is made with barium swallow study and esophageal manometry. In adults, endoscopic biopsy is recommended to exclude malignancy however; it is not as often indicated in children. Medical management often fails resulting in recurrent symptoms and the ultimate definitive treatment is surgical. Laparoscopic Heller myotomy with or without an anti-reflux procedure is the treatment of choice and has become standard of care for children with achalasia. Peroral endoscopic myotomy is a novel therapy utilized with increasing frequency for achalasia treatment in adults. More experience is needed to determine the safety, efficacy, and feasibility of peroral endoscopic myotomy in children. PMID:24748917

  19. Peroral endoscopic myotomy: Time to change our opinion regarding the treatment of achalasia?

    PubMed Central

    Tantau, Marcel; Crisan, Dana

    2015-01-01

    Peroral endoscopic myotomy (POEM) is a new endoscopic treatment for achalasia. Compared to the classical surgical myotomy, POEM brings at least the advantage of minimal invasiveness. The data provided until now suggest that POEM offers excellent short-term symptom resolution, with improvement of dysphagia in more than 90% of treated patients, with encouraging manometric outcomes and low incidence of postprocedural gastroesophageal reflux. The effectiveness of this novel therapy requires long-term follow-up and comparative studies with other treatment modalities for achalasia. This technique requires experts in interventional endoscopy, with a learning curve requiring more than 20 cases, including training on animal and cadaver models, and with a need for structured proctoring during the first cases. This review aims to summarize the data on the technique, outcomes, safety and learning curve of this new endoscopic treatment of achalasia. PMID:25789094

  20. The Outcome of Laparoscopic Surgery With and Without Short Gastric Vessel Division for Achalasia

    PubMed Central

    Akutsu, Yasunori; Hanari, Naoyuki; Kono, Tsuguaki; Uesato, Masaya; Hoshino, Isamu; Murakami, Kentaro; Natsume, Toshiyuki; Isozaki, Yuka; Akanuma, Naoki; Toyozumi, Takeshi; Suito, Hiroshi; Matsubara, Hisahiro

    2014-01-01

    Short gastric vessel division (SGVD) has been performed as a part of fundoplication for achalasia. However, whether or not SGVD is necessary is still unknown. Forty-six patients with achalasia who underwent a laparoscopic surgery with or without SGVD were analyzed. A questionnaire was administered to assess the postoperative improvement. Regarding improvement of dysphagia and postoperative reflux, there were no significant differences between SGVD (+) group and SGVD (−) group (P = 0.588 and P = 0.686, respectively). Nineteen patients (95%) in the SGVD (+) group and 24 (92%) in the SGVD (−) group answered that the surgery was satisfactory (P = 0.756). In the SGVD (+) group, the pre- and postsurgical body weight increase was +7.3%. In the SGVD (−) group, it was 8.2%. There was no significant difference of body weight increase between the 2 groups (P = 0.354). SGVD is not always required in laparoscopic surgery for achalasia. PMID:25437598

  1. [Mechanisms of adrenal embryogenesis].

    PubMed

    Barinov, E F; Sulaeva, O N

    2001-01-01

    The aim of this vie is to discuss the general principles of prenatal development of adrenal gland. On the basis of spatial-temporal heterogenity of structural particularites of fetal adrenal cortex, spectrum steroidogenic enzymes and secreting hormones expression in adrenocorticocytes, regulation of proliferation and differentiation processes mechanisms, authors discuss adrenal morphogenesis in three periods of gestation. It was noted the close relationship between placenta development and hypothalamo-pituitary-adrenocortical system formation with specification in each gestation period. Adrenal embryogenesis accompanied by remodeling of structural, functional and biochemical properties of parenchimal-stromal elements of fetal organ. Definitive zonation formation determined by morphogens: ACTH, renal and intraadrenal angiotensin II, estrogens, prostaglandines and other. The action of these factors realization is due to immediately and thought growth factor system (IGF-I, IGF-II, EGF, bFGF), working as paracrine amplificators of morphogenetic signals and activators of transcriptional factors--c-fos and c-jun.

  2. Acute adrenal crisis

    MedlinePlus

    ... condition that occurs when there is not enough cortisol. This is a hormone produced by the adrenal ... parts. The outer portion, called the cortex, produces cortisol. This is an important hormone for controlling blood ...

  3. Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years

    PubMed Central

    Tebaibia, Amar; Boudjella, Mohammed Amine; Boutarene, Djamel; Benmediouni, Farouk; Brahimi, Hakim; Oumnia, Nadia

    2016-01-01

    AIM To investigate the incidence of achalasia in Algeria and to determine its clinical and para-clinical profile. To evaluate the impact of continuing medical education (CME) on the incidence of this disease. METHODS From 1990 to 2014, 1256 patients with achalasia were enrolled in this prospective study. A campaign of CME on diagnosis involving different regions of the country was conducted between 1999 and 2003. Annual incidence and prevalence were calculated by relating the number of diagnosed cases to 105 inhabitants. Each patient completed a standardized questionnaire, and underwent upper endoscopy, barium swallow and esophageal manometry. We systematically looked for Allgrove syndrome and familial achalasia. RESULTS The mean annual incidence raised from 0.04 (95%CI: 0.028-0.052) during the 1990s to 0.27/105 inhabitants/year (95%CI: 0.215-0.321) during the 2000s. The incidence of the disease was two and half times higher in the north and the center compared to the south of the country. One-hundred-and-twenty-nine (10%) were children and 97 (7.7%) had Allgrove syndrome. Familial achalasia was noted in 18 different families. Patients had dysphagia (99%), regurgitation (83%), chest pain (51%), heartburn 24.5% and weight loss (70%). The lower esophageal sphincter was hypertensive in 53% and hypotensive in 0.6%. CONCLUSION The mean incidence of achalasia in Algeria is at least 0.27/105 inhabitants. A good impact on the incidence of CME was noted. A gradient of incidence between different regions of the country was found. This variability is probably related to genetic and environmental factors. The discovery of an infantile achalasia must lead to looking for Allgrove syndrome and similar cases in the family. PMID:27784974

  4. Oesophageal food impaction in achalasia treated with Coca-Cola and nifedipine.

    PubMed

    Koumi, Andriani; Panos, Marios Zenon

    2010-01-01

    Achalasia is characterised by the loss of peristaltic movement in the distal oesophagus and failure of the lower oesophageal sphincter relaxation, which results in impaired oesophageal emptying. We report a case of a 92-year-old frail woman with a history of achalasia, who presented with acute oesophageal obstruction due to impaction of a large amount of food material. She was treated successfully with nifedipine, in combination with Coca-Cola (original product, not sugar free), so avoiding the risks associated with repeated endoscopic intubation and piecemeal removal of the oesophageal content.

  5. Pulmonary infection with rapidly growing mycobacteria in a singer with achalasia: a case report.

    PubMed

    Cramer, J P; Sudeck, H; Burchard, G D

    2007-04-01

    We report the case of a 37-year-old male patient with prolonged pneumonia and achalasia. Culture and molecular genetic typing identified Mycobacterium abscessus as causative agent. Treatment with clarithromycin and minocycline over 8 months gradually resolved the infection. Rapidly growing, non-obligate pathogenic mycobacteria are widespread in the environment. Several cases of pulmonary infections with these mycobacteria in patients with achalasia have been reported, suggesting a causative association. This is the first report of a case with isolation of M. abscessus in this context. PMID:17316814

  6. Peroral Endoscopic Myotomy for the Treatment of Achalasia in a 10-Year-Old Male Patient

    PubMed Central

    Filser, Jörg; Dick, Anke; Meyer, Thomas; Germer, Christoph-Thomas; von Rahden, Burkard H.A.

    2014-01-01

    Peroral endoscopic myotomy (POEM) is a new endoscopic treatment for achalasia with very good short-term results in adults. Data about POEM in pediatric patients are missing. We present the case of a 10-year-old male patient with type I (classic) achalasia, successfully treated with POEM. The procedure was accomplished in a similar fashion to the technique used in adults. Short-term results were fine, with a complete control of dysphagia and absence of reflux. We suggest that POEM is a suitable option in pediatric patients—similar to adults—but long-term results must be awaited. PMID:26171309

  7. Esophageal achalasia associated with gastric carcinoma: lack of evidence for widespread plexus destruction.

    PubMed Central

    Shulze, K. S.; Goresky, C. A.; Jabbari, M.; Lough, J. O.

    1975-01-01

    Achalasia of the esophagus occurred in association with gastric carcinoma involving the cardia. Except in a limited area subjacent to the squamocolumnar junction, the pathologic findings were unusual in that the myenteric plexus of the body of the esophagus was intact and apparently uninvolved. The hypothesis is advanced that, in this instance, the achalasia could be classified as a tumour-associated funnctional disorder due to distant neural involvement rather than to local invasion with plexus destruction. Images FIG. 1 FIG. 2 FIG. 3 FIG. 4 PMID:1122459

  8. Achalasia in central Israel, 1973-83: clinical aspects.

    PubMed

    Arber, N; Grossman, A; Tiomny, E; Rattan, J; Kadish, U; Novis, B; Neuman, G; Lilos, P; Rozen, P; Gilat, T

    1994-12-01

    In the framework of an epidemiologic study we collected data on all the 162 patients with achalasia in central Israel. The mean (+/- SD) follow-up was 9.9 +/- 8.7 years (range 1-52). At the last, as compared to the initial examination, the clinical condition of the patients had improved: 38% were without dysphagia as compared to 0% initially, 67% did not vomit and 92% did not complain of aspiration as compared to 17% and 68% initially, and 67% did not complain of chest pain as against 36% initially. In contrast, X-ray examinations, endoscopy as well as manometry did not show major changes. Esophageal retention of a semisolid radiolabeled meal 10 min after ingestion was 46 +/- 25% initially and 34 +/- 26% at last examination (NS). Medical therapy was given to 99 patients and a beneficial response was initially noted in 65% of them. About 88.7% had a beneficial response to surgery and 82.7% to pneumatic dilatations which were associated with a 7.3% perforation rate. Overall the clinical course of this unselected, regional group of patients was better than expected.

  9. Primary bilateral adrenal B-cell lymphoma associated with EBV and JCV infection

    PubMed Central

    Barzon, Luisa; Trevisan, Marta; Marino, Filippo; Guzzardo, Vincenza; Palù, Giorgio

    2009-01-01

    Primary lymphoma of the adrenal gland is a rare and highly aggressive disease, with only a few reports in the literature. The pathogenesis is unknown, but detection of Epstein Barr virus (EBV) genome sequences and gene expression in some cases of primary adrenal lymphomas suggested the virus might be a causative agent of the malignancy. While investigating the presence of genome sequences of oncogenic viruses in a large series of adrenal tumors, both EBV and JC polyomavirus (JCV) DNA sequences were detected in a diffuse large primary bilateral B-cell non-Hodgkin lymphoma of the adrenal gland, which was diagnosed only at postmortem examination in a 77 year-old woman with incidentally discovered adrenal masses and primary adrenal insufficiency. The presence of both EBV and JCV genome sequences suggests the relevance of EBV and JCV coinfection in the pathogenesis of this rare form of B-cell lymphoma. PMID:19146683

  10. Characterization of the LPS-induced inflammation of the adrenal gland in mice.

    PubMed

    Kanczkowski, Waldemar; Chatzigeorgiou, Antonios; Samus, Maryna; Tran, Nguyen; Zacharowski, Kai; Chavakis, Triantafyllos; Bornstein, Stefan R

    2013-05-22

    Systemic administration of endotoxin, which closely mimics the bacteria-induced systemic inflammatory response syndrome (SIRS) can ultimately lead to organ failure. Adrenal gland insufficiency is frequently diagnosed in critically ill patients; however, the underlying mechanisms are still unclear. In the present study, we studied comprehensively the characteristics of adrenal gland dysregulation, including inflammation, leukocyte infiltration and cell death in the adrenal glands in the course of LPS-induced systemic inflammation in mice. LPS enhanced expression of many proinflammatory cytokines, chemokines and adhesion molecules, which resulted in rapid recruitment of leukocytes into the adrenal gland. Furthermore, LPS-mediated inflammation was associated with increased apoptosis of adrenocortical and chromaffin cells. Our results performed in mice, suggest that LPS-induced adrenal gland inflammation and cell death might be mechanisms potentially involved in the adrenal gland dysfunction in patients with sepsis.

  11. [Adrenal pseudocyst; a case report].

    PubMed

    Minagawa, Tomonori; Nishizawa, Shuji; Nakayama, Tsuyoshi; Okaneya, Toshikazu

    2007-02-01

    We report a case of adrenal pseudocyst. A 35-year-old woman presented with palpation of right upper abdominal mass without tenderness. Abdominal computed tomographic scan showed a right retroperitoneal cystic mass 20 cm in diameter. The patient underwent complete resection of the mass, including the normal adrenal gland. The cyst contained 3100 ml of dark brown thrombotic liquid. Histopathological examination revealed adrenal pseudocyst with a thick figrocollagenous wall. The normal adrenal gland was compressed by the wall. Adrenal pseudocyst is a rare disease. The mechanisms of adrenal pseudocyst formation and their expanding nature are discussed.

  12. Venous insufficiency at work.

    PubMed

    Hobson, J

    1997-07-01

    Chronic venous disease of the lower limbs is one of the most common conditions affecting humankind. It has been postulated that certain workplace conditions may be risk factors for venous insufficiency and varicose veins in particular. This paper examines the evidence for a link between occupation and the prevalence of venous disease. It also reviews recent French research carried out to estimate the prevalence of chronic venous insufficiency in a working population; work and nonwork risk factor and the cost to industry from this condition are also examined. PMID:9242155

  13. Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.

    PubMed

    Palmieri, Orazio; Mazza, Tommaso; Merla, Antonio; Fusilli, Caterina; Cuttitta, Antonello; Martino, Giuseppina; Latiano, Tiziana; Corritore, Giuseppe; Bossa, Fabrizio; Palumbo, Orazio; Muscarella, Lucia Anna; Carella, Massimo; Graziano, Paolo; Andriulli, Angelo; Latiano, Anna

    2016-01-01

    Idiopathic achalasia is characterized by the absence of peristalsis secondary to loss of neurons in the myenteric plexus that hampers proper relaxation of the lower esophageal sphincter. Achalasia can be considered a multifactorial disorder as it occurs in related individuals and is associated with HLA class II genes, thereby suggesting genetic influence. We used microarray technology and advanced in-silico functional analyses to perform the first genome-wide expression profiling of mRNA in tissue samples from 12 achalasia and 5 control patients. It revealed 1,728 differentially expressed genes, of these, 837 (48.4%) were up-regulated in cases. In particular, genes participating to the smooth muscle contraction biological function were mostly up-regulated. Functional analysis revealed a significant enrichment of neuronal/muscular and neuronal/immunity processes. Upstream regulatory analysis of 180 genes involved in these processes suggested TLR4 and IL18 as critical key-players. Two functional gene networks were significantly over-represented: one involved in organ morphology, skeletal muscle system development and function, and neurological diseases, and the other participating in cell morphology, humoral immune response and cellular movement. These results highlight on pivotal genes that may play critical roles in neuronal/muscular and neuronal/immunity processes, and that may contribute to the onset and development of achalasia. PMID:27511445

  14. Quantitative assessment of the response to therapy in achalasia of the cardia.

    PubMed

    Robertson, C S; Hardy, J G; Atkinson, M

    1989-06-01

    Radionuclide oesophageal transit studies and manometry have been carried out in 15 patients with achalasia of the cardia, before treatment, after a course of nifedipine and after pneumatic bag dilatation. Transit studies were also done in 10 patients after cardiomyotomy and in 10 normal subjects. Images were recorded with the subjects seated in front of a gamma camera while swallowing a 10 ml bolus of 99Tcm-tin colloid and then after a further drink of 50 ml water. There was marked retention of tracer in the oesophagus in patients with achalasia compared with rapid clearance in control subjects. Bag dilatation significantly reduced lower oesophageal sphincter pressure but there was no significant difference in the 50% clearance time or percentage dose retained at 100s before and after the treatments. Oesophageal clearance of tracer after the additional drink of water, was improved by bag dilatation. Oesophageal transit in the patients after cardiomyotomy was similar to that in patients who had undergone bag dilatation. There was considerable retention of the tracer in the oesophagus overnight, but this did not result in pulmonary aspiration. Radionuclide oesophageal transit studies provided a quantitative assessment of therapy in achalasia and the proportion of tracer retained after the additional drink proved to be a sensitive measure of response to treatment. Nifedipine proved ineffective as a treatment for achalasia. Bag dilatation and cardiomyotomy were of similar value.

  15. Achalasia with megaesophagus and tracheal compression in a young patient: A case report

    PubMed Central

    Kaths, J. Moritz; Foltys, Daniel B.; Scheuermann, Uwe; Strempel, Mari; Niebisch, Stefan; Ebert, Maren; Jansen-Winkeln, Boris; Gockel, Ines; Lang, Hauke

    2015-01-01

    Introduction Achalasia is one of the most common causes of dysphagia. Typical symptoms include difficulties in controlling the swallowing process, regurgitation, weight loss, and chest pain. A megaesophagus rarely causes tracheal compression with consecutive acute dyspnea or similar respiratory symptoms. Presentation of case A 23-year-old male patient presented with difficulties in swallowing, a consecutive massive weight loss over the past three years, and minor respiratory ailments. Further diagnostics revealed a megaesophagus caused by achalasia leading to a severe compression of the trachea. A laparoscopic Heller myotomy with anterior semi-fundoplication 180° according to Dor was performed. Discussion Acute dyspnea and similar respiratory symptoms are rarely observed in patients with achalasia, especially in young patients. Early diagnosis and timely, proper treatment are the hallmarks of restoring esophageal and tracheobronchial function and of successful prevention of severe long-lasting complications of the disease. When not treated properly, the disease may have progressed rapidly, leading to distinct respiratory symptoms such as stridor and acute dyspnea Conclusion This report emphasizes that physicians should be alert and consider airway obstruction and signs of dyspnea as severe and threatening symptoms in extensive cases of achalasia with megaesophagus. Early surgical treatment provides a therapeutic option to obviate the occurrence of acute respiratory distress and consecutive complications. In particular, difficulties in intubation prior to surgery must be considered. PMID:26209755

  16. Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia

    PubMed Central

    Palmieri, Orazio; Mazza, Tommaso; Merla, Antonio; Fusilli, Caterina; Cuttitta, Antonello; Martino, Giuseppina; Latiano, Tiziana; Corritore, Giuseppe; Bossa, Fabrizio; Palumbo, Orazio; Muscarella, Lucia Anna; Carella, Massimo; Graziano, Paolo; Andriulli, Angelo; Latiano, Anna

    2016-01-01

    Idiopathic achalasia is characterized by the absence of peristalsis secondary to loss of neurons in the myenteric plexus that hampers proper relaxation of the lower esophageal sphincter. Achalasia can be considered a multifactorial disorder as it occurs in related individuals and is associated with HLA class II genes, thereby suggesting genetic influence. We used microarray technology and advanced in-silico functional analyses to perform the first genome-wide expression profiling of mRNA in tissue samples from 12 achalasia and 5 control patients. It revealed 1,728 differentially expressed genes, of these, 837 (48.4%) were up-regulated in cases. In particular, genes participating to the smooth muscle contraction biological function were mostly up-regulated. Functional analysis revealed a significant enrichment of neuronal/muscular and neuronal/immunity processes. Upstream regulatory analysis of 180 genes involved in these processes suggested TLR4 and IL18 as critical key-players. Two functional gene networks were significantly over-represented: one involved in organ morphology, skeletal muscle system development and function, and neurological diseases, and the other participating in cell morphology, humoral immune response and cellular movement. These results highlight on pivotal genes that may play critical roles in neuronal/muscular and neuronal/immunity processes, and that may contribute to the onset and development of achalasia. PMID:27511445

  17. Early myotomy and fundoplication in achalasia in childhood: a single-centre experience for 22 years.

    PubMed

    Erginel, Basak; Gun Soysal, Feryal; Keskin, Erbug; Celik, Alaaddin; Salman, Tansu

    2016-02-01

    Introduction The aim of this study was to review a single institution's experience with surgical interventions in children with achalasia and to determine treatment strategies for this rare disorder. Patients and methods This study is a retrospective analysis of 22 cases of childhood achalasia from 1991 to 2013. The patients were evaluated in terms of age, symptoms, interventions, intraoperative complications, and recurrent dysphagia. Results There were 13 boys and nine girls (7 months to 17 years old). The clinical symptoms were vomiting (68%), dysphagia (36%), wheezing (18%), coughing (13%), and weight-loss (13%). The mean duration of symptoms was 2.4 years (1 month to 6 years). A barium contrast X-ray study was performed in all of the patients. Oesophageal manometry was performed in eight patients. Six patients underwent multiple oesophageal dilatations (ED) as a first intervention. A Heller myotomy (HM) and fundoplication were performed in all the patients except two patients who recovered with dilatation. In the long term, one patient had a stricture due to the operation and had to undergo a reoperation. Of the Heller myotomy patients, one had a recurrent stricture that responded to dilatation. No other complications were present. All the patients are now asymptomatic. Conclusion Early diagnosis and prompt surgical treatment is important to prevent growth impairment in childhood achalasia cases. A Heller myotomy followed by a partial anti-reflux procedure is an effective treatment for achalasia in children. Based on our experience, it is superior to oesophageal dilatation therapy. PMID:27385135

  18. Acute adrenal haemorrhage: diagnosis, treatment and follow-up.

    PubMed

    Ferreira, J G; Borri, M L; Menasce, S; Ajzen, S; Kater, C E; Faiçal, S

    1996-01-01

    Acute adrenal haemorrhage (AAH) is a rare disorder with different aetiologies. Aiming to discuss this condition, this report deals with four different cases that will be analysed and examined below, each one of them confirmed by biopsy or surgery and followed clinically and radiologically. In these cases it was found that the patients suffered from localized abdominal pain (4/4) and fever (2/4); one patient had adrenal insufficiency due to bilateral massive AAH. Therefore we concluded that AAH is an uncommon condition with variable clinical manifestations. PMID:9089038

  19. What Is Adrenal Cortical Cancer?

    MedlinePlus

    ... include pheochromocytomas (which are most often benign) and neuroblastomas . This document is about tumors and cancers of ... does not discuss tumors of the adrenal medulla. Neuroblastoma s are covered in a separate document . Adrenal cortex ...

  20. Standards of ultrasound imaging of the adrenal glands.

    PubMed

    Słapa, Rafał Z; Jakubowski, Wiesław S; Dobruch-Sobczak, Katarzyna; Kasperlik-Załuska, Anna A

    2015-12-01

    Adrenal glands are paired endocrine glands located over the upper renal poles. Adrenal pathologies have various clinical presentations. They can coexist with the hyperfunction of individual cortical zones or the medulla, insufficiency of the adrenal cortex or retained normal hormonal function. The most common adrenal masses are tumors incidentally detected in imaging examinations (ultrasound, tomography, magnetic resonance imaging), referred to as incidentalomas. They include a range of histopathological entities but cortical adenomas without hormonal hyperfunction are the most common. Each abdominal ultrasound scan of a child or adult should include the assessment of the suprarenal areas. If a previously non-reported, incidental solid focal lesion exceeding 1 cm (incidentaloma) is detected in the suprarenal area, computed tomography or magnetic resonance imaging should be conducted to confirm its presence and for differentiation and the tumor functional status should be determined. Ultrasound imaging is also used to monitor adrenal incidentaloma that is not eligible for a surgery. The paper presents recommendations concerning the performance and assessment of ultrasound examinations of the adrenal glands and their pathological lesions. The article includes new ultrasound techniques, such as tissue harmonic imaging, spatial compound imaging, three-dimensional ultrasound, elastography, contrast-enhanced ultrasound and parametric imaging. The guidelines presented above are consistent with the recommendations of the Polish Ultrasound Society.

  1. Upper esophageal sphincter abnormalities are strongly predictive of treatment response in patients with achalasia

    PubMed Central

    Mathews, Simon C; Ciarleglio, Maria; Chavez, Yamile Haito; Clarke, John O; Stein, Ellen; Chander Roland, Bani

    2014-01-01

    AIM: To investigate the relationship between upper esophageal sphincter abnormalities achalasia treatment METHODS: We performed a retrospective study of 41 consecutive patients referred for high resolution esophageal manometry with a final manometric diagnosis of achalasia. Patients were sub-divided by presence or absence of Upper esophageal sphincter (UES) abnormality, and clinical and manometric profiles were compared. Correlation between UES abnormality and sub-type (i.e., hypertensive, hypotensive or impaired relaxation) and a number of variables, including qualitative treatment response, achalasia sub-type, co-morbid medical illness, psychiatric illness, surgical history, dominant presenting symptom, treatment type, age and gender were also evaluated. RESULTS: Among all 41 patients, 24 (58.54%) had a UES abnormality present. There were no significant differences between the groups in terms of age, gender or any other clinical or demographic profiles. Among those with UES abnormalities, the majority were either hypertensive (41.67%) or had impaired relaxation (37.5%) as compared to hypotensive (20.83%), although this did not reach statistical significance (P = 0.42). There was no specific association between treatment response and treatment type received; however, there was a significant association between UES abnormalities and treatment response. In patients with achalasia and concomitant UES abnormalities, 87.5% had poor treatment response, while only 12.5% had favorable response. In contrast, in patients with achalasia and no UES abnormalities, the majority (78.57%) had good treatment response, as compared to 21.43% with poor treatment response (P = 0.0001). After controlling for achalasia sub-type, those with UES abnormality had 26 times greater odds of poor treatment response than those with no UES abnormality (P = 0.009). Similarly, after controlling for treatment type, those with UES abnormality had 13.9 times greater odds of poor treatment response

  2. [Giant adrenal myelolipoma].

    PubMed

    El Mejjad, Amine; Fekak, Hamid; Dakir, Mohamed; Sarf, Ismail; Manni, Ahmed; Meziane, Fethi

    2004-02-01

    Adrenal myelolipoma is a rare, benign, non-secreting tumour composed of adipose and haematopoietic tissue. The authors report a rare case of giant adrenal myelolipoma in a 53-year-old patient presenting with low back pain and a palpable flank mass on examination. CT scan suggested the diagnosis and surgical resection was indicated in view of the size and symptomatic nature of this mass. Histological examination confirmed the diagnosis. The outcome was favourable without recurrence after a follow-up of one year. The diagnosis of adrenal myelolipoma is based on radiology. Conservative management is generally sufficient for small asymptomatic tumours, but resection is required for large (> 5 cm) and/or symptomatic tumours.

  3. Genetics of adrenal tumors.

    PubMed

    Opocher, G; Schiavi, F; Cicala, M V; Patalano, A; Mariniello, B; Boaretto, F; Zovato, S; Pignataro, V; Macino, B; Negro, I; Mantero, F

    2009-06-01

    The impact of genetics and genomics on clinical medicine is becoming more and more important. Endocrinology pioneered the development of molecular medicine, but also the study of adrenal tumors had a great impact in this field. Particularly important was the detection of genetics of tumors derived from the adrenal medulla, as well as that of those derived from the sympathetic and parasympathetic paraganglia. The identification of mutations in one of the several pheochromocytoma/paraganglioma susceptibility genes may indicate a specific clinical management drive. Less well understood is the genetics of adrenal cortex tumors, in particular adrenocortical carcinoma, a rare and particularly aggressive disease. There are only a few examples of hereditary transmission of adrenocortical carcinoma, but the analysis of low penetrance genes by genome wide association study may enable us to discover new genetic mechanisms responsible for adrenocortical-derived tumors. PMID:19471236

  4. Partial recovery of peristalsis after myotomy for achalasia; more the rule than the exception

    PubMed Central

    Roman, Sabine; Kahrilas, Peter J; Mion, François; Nealis, Thomas B; Soper, Nathaniel J; Poncet, Gilles; Nicodème, Frédéric; Hungness, Eric; Pandolfino, John E

    2013-01-01

    Hypothesis: Myotomy that alleviates the esophagogastric junction (EGJ) outflow obstruction in achalasia might improve peristalsis. Design: Retrospective study Setting: Two tertiary hospitals (Chicago, USA and Lyon, France) Patients: Thirty patients (18 males; mean age 43 years, range 17-78) were included from 2004 to 2012: 8 type 1 achalasia (27%), 17 type 2 (57%) and 5 type 3 (16%) according to the Chicago Classification. Interventions: Esophageal high resolution manometry (HRM) before and after laparoscopic or endoscopic myotomy. Main outcomes measures: The integrity of peristalsis was characterized as intact, weak, frequent failed, absent, or premature contractions. Results: Whereas peristaltic fragments were evident only in patients with type 3 achalasia before treatment, intact, weak, or frequent failed peristalsis was encountered in 63% of type 1, 47% of type 2 and 80% of type 3 achalasia after myotomy. One type 3 patient had distal esophageal spasm after treatment. In patients with a post-myotomy integrated relaxation pressure (IRP) <15 mmHg, only 10 (40%) persisted in having absent peristalsis. Panesophageal pressurization disappeared after myotomy in 16 of 19 patients. In the 5 patients with post-myotomy IRP >15 mmHg, 4 had weak peristalsis and one had absent peristalsis. Conclusion: Reduction or normalization of the EGJ relaxation pressure achieved by myotomy in achalasia patients was associated with partial recovery of peristalsis in some patients suggesting that the disease process progresses from the EGJ to the esophageal body. Whether or not the return of peristalsis is predictive of an improved therapeutic outcome requires further study. PMID:23426591

  5. Adrenal venous sampling in a patient with adrenal Cushing syndrome

    PubMed Central

    Villa-Franco, Carlos Andrés; Román-Gonzalez, Alejandro; Velez-Hoyos, Alejandro; Echeverri-Isaza, Santiago

    2015-01-01

    The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia. PMID:26309345

  6. Adrenal venous sampling in a patient with adrenal Cushing syndrome.

    PubMed

    Builes-Montaño, Carlos Esteban; Villa-Franco, Carlos Andrés; Román-Gonzalez, Alejandro; Velez-Hoyos, Alejandro; Echeverri-Isaza, Santiago

    2015-01-01

    The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia.

  7. [Travel and renal insufficiency].

    PubMed

    Lavelle, O; Berland, Y

    1997-01-01

    Traveling can be dangerous for subjects with kidney insufficiency. Water loss or septic episodes can further increase renal dysfunction. Poor diet can lead to hyperkaliemia. Immunosuppression not only enhances the risk of infection but also complicates administration of live vaccines. Some antimalarial drugs are contraindicated (e.g. mefloquine) and others must be used with precaution. Prior to departure persons requiring hemodialysis should book sessions at centers listed in specialized guidebooks. In addition to infection, risks for hemodialysis patients include thrombosis of the arteriovenous fistula in case of dehydration or hypotension. In subjects with transplanted kidney, the risk of rejection can be enhanced either by poor compliance with immunodepressor treatment or by vaccination-induced antigenic stimulation. Pre-travel evaluation is necessary to determine metabolic, nutritional, and immune status. Subjects with kidney insufficiency and transplanted kidneys should be informed of the dangers and appropriate action in case of trouble.

  8. Pelvic Insufficiency Fractures

    PubMed Central

    O’Connor, Timothy J.

    2014-01-01

    Pelvic insufficiency fractures may occur in the absence of trauma or as a result of low-energy trauma in osteoporotic bone. With a growing geriatric population, the incidence of pelvic insufficiency fracture has increased over the last 3 decades and will continue to do so. These fractures can cause considerable pain, loss of independence, and economic burden to both the patient and the health care system. While many of these injuries are identified and treated based on plain radiographs, some remain difficult to diagnose. The role of advanced imaging in these cases is discussed. In addition to treating the fracture, medical comorbidities contributing to osteoporosis should be identified and corrected. Specific attention has been given to 25-OH serum vitamin D screening and repletion. Treatment generally consists of providing pain control and assisting patients with mobilization while allowing weight bearing as tolerated. In those unable to do so, invasive techniques such as sacroplasty as well as internal fixation may be beneficial. The role of operative fixation in insufficiency fractures is also discussed. PMID:26246940

  9. Micropenis and congenital adrenal hypoplasia.

    PubMed

    Bourgeois, M J; Jones, B; Waagner, D C; Dunn, D

    1989-01-01

    Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.

  10. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  11. High-resolution Impedance Manometry Measurement of Bolus Flow Time in Achalasia and its Correlation with Dysphagia

    PubMed Central

    Lin, Zhiyue; Carlson, Dusty; Dykstra, Kristina; Sternbach, Joel; Hungness, Eric; Kahrilas, Peter J.; Ciolino, Jody D.; Pandolfino, John E.

    2015-01-01

    Background We assessed whether a high-resolution impedance manometry (HRIM) metric, bolus flow time (BFT) across the esophagogastric junction (EGJ), was abnormal in achalasia patients subtyped by the Chicago Classification and compared BFT to other HRM metrics. Methods HRIM studies were performed in 60 achalasia patients (14 type I, 36 type II and 10 type III) and 15 healthy controls. Studies were analyzed with a MATLAB program to calculate BFT using a virtual HRIM sleeve. Integrated relaxation pressure (IRP) and basal end-expiratory EGJ pressure were also calculated. The relationship between BFT and dysphagia symptom scores was assessed using the impaction dysphagia questionnaire (IDQ). Key Results Median BFT was significantly lower in achalasia patients (0.5 s, range 0.0 to 3.5 s) compared to controls (3.5 s, range 2.0 to 5.0 s) (P<0.05). BFT was significantly lower in types I and II than in type III achalasia in both the supine and upright positions (p<0.0001). BFT was the only HRIM metric significantly associated with IDQ score in both the supine (R2 =0.20, p=0.0046) and upright positions (R2 =0.27, p=0.0002). Conclusions & Inferences BFT was significantly reduced in all subtypes of achalasia and complementary to the IRP as a diagnostic discriminant in equivocal achalasia cases. Additionally, BFT had a more robust correlation with dysphagia severity compared to other metrics of EGJ function. PMID:26088614

  12. Immunological Studies on Adrenal Glands

    PubMed Central

    Milgrom, Felix; Witebsky, Ernest

    1962-01-01

    Rabbits injected with a bovine adrenal suspension incorporated into Freund adjuvants produced antibodies reacting in a variety of serological tests with extracts of bovine adrenals as well as with extracts of other bovine organs. The double diffusion gel precipitation procedure and absorption experiments revealed that part of these antibodies were specific for adrenal only. In immunoelectrophoretic analysis the adrenal-specific reaction appeared as a line on the anodal part of the electrophoretic field. When extraction was performed at 100° and the extracts autoclaved at 120°, the adrenal-specific antigen remained unaltered, whereas all but one of the non-adrenal-specific antigens (i.e. antigens shared by other bovine organs) were destroyed. The adrenal-specific antigen was localized predominantly, if not exclusively, in the medulla. A similar or identical antigen was found in the adrenals of sheep but not in those of any other species tested. The adrenal-specific antigen was precipitated by ethanol at 72 per cent concentration; it was not destroyed by 90 per cent phenol extraction. Re-dissolved ethanol precipitate of boiled bovine adrenal extract incorporated into Freund adjuvants elicited production of adrenal-specific antibodies when injected into rabbits. ImagesFIG. 2FIG. 3FIG. 4FIG. 5FIG. 8 PMID:14473880

  13. The Evaluation of Adrenal Function in Two Cases of Hypocortisolism Accompanied by Liver Cirrhosis.

    PubMed

    Yamashita, Maki; Kageyama, Kazunori; Murakami, Hiroshi; Sugiyama, Aya; Yanagimachi, Miyuki; Sato, Eri; Murasawa, Shingo; Matsui, Jun; Tamasawa, Naoki; Daimon, Makoto

    2016-01-01

    Adrenal insufficiency may occur in patients with liver cirrhosis. The assessment of hypothalamus-pituitary-adrenal function is important in such patients, but there is no consensus as to how it should be performed. We herein report the results of our evaluation of the adrenal function in two patients with hypocortisolism accompanied by liver cirrhosis. The patients lacked the typical features of hypocortisolism. One was diagnosed with hypocortisolism accompanied by liver cirrhosis while the other had secondary adrenal insufficiency caused by a hypothalamic disorder. Hypocortisolism accompanied by liver cirrhosis should be evaluated by endocrine tests to determine its pathogenesis. A low-dose adrenocorticotropic hormone test may be appropriate for non-critically ill cirrhotic patients.

  14. [Chronic venous insufficiency (CVI)].

    PubMed

    Renner, R; Simon, J

    2009-10-01

    Chronic venous insufficiency (CVI) is an important and frequent disease for dermatologists, phlebologists and general practitioners. There are various hypotheses for the ethiopathology in CVI, e. g. hormone receptors and impairments concerning the venous contraction or relaxation of the vessel wall and the venous valves might play an important role. At the moment, colour doppler-duplex sonography seems to be the diagnostic method of choice. Modern therapeutic options include compression systems alone or in combination with topical or systemic treatment including minimal invasive methods like endovenous laser or radiofrequency obliteration or foam sclerotherapy. PMID:19826982

  15. Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

    PubMed

    El-Khairi, Ranna; Martinez-Aguayo, Alejandro; Ferraz-de-Souza, Bruno; Lin, Lin; Achermann, John C

    2011-01-01

    The nuclear receptor transcription factors DAX-1 (NR0B1) and SF-1 (NR5A1) regulate many aspects of adrenal and reproductive development and function. Disruption of the genes encoding these factors can be associated with pediatric adrenal disease. DAX-1 mutations are classically associated with X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism and impaired spermatogenesis. However, other phenotypes are also being reported, such as isolated mineralocorticoid insufficiency, premature sexual development, primary adrenal insufficiency in a 46, XX patient and late-onset X-linked adrenal hypoplasia congenita and/or hypogonadotropic hypogonadism. SF-1 mutations have also been associated with primary adrenal insufficiency, together with 46, XY disorders of sex development. However it is emerging that SF-1 changes are a relatively rare cause of primary adrenal failure in humans, and most individuals with SF-1 mutations have a spectrum of 46, XY disorders of sex development phenotypes. These conditions range from 46, XY females with streak gonads and müllerian structures, through children with ambiguous genitalia and inguinal testes, to severe penoscrotal hypospadias with undescended testes. Therefore, the human gonad appears to be more sensitive than the adrenal gland to loss of SF-1 function. This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations.

  16. Genetic disorders involving adrenal development.

    PubMed

    Lin, Lin; Ferraz-de-Souza, Bruno; Achermann, John C

    2007-01-01

    The past decade has seen significant advances in our understanding of the genetic aetiology of several forms of adrenal failure that present in infancy or childhood. Several of these disorders affect adrenal development and are termed 'adrenal hypoplasia'. These conditions can be broadly divided into: (1) secondary forms of adrenal hypoplasia due to panhypopituitarism (e.g. HESX1, LHX4, SOX3) or abnormalities in ACTH synthesis (TPIT) or processing (e.g. POMC or PC1); (2) adrenal hypoplasia as part of an ACTH resistance syndrome [MC2R/ACTH receptor, MRAP, AAAS (triple A syndrome)], and (3) primary defects in the development of the adrenal gland itself (primary adrenal hypoplasia). Primary adrenal hypoplasia most commonly occurs in an X-linked form due to mutations in the nuclear receptor DAX1 (NR0B1) but can occur in a poorly understood recessive form or as part of the IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia, genitourinary anomalies) syndrome. Defining the molecular basis of these conditions can have significant clinical implications for management, counselling and presymptomatic diagnosis, as well as providing fascinating insight into normal and abnormal mechanisms of adrenal development in humans.

  17. Childhood virilization and adrenal suppression after ingestion of methandienone and cyproheptadine.

    PubMed

    Poomthavorn, Preamrudee; Mahachoklertwattana, Pat; Khlairit, Patcharin

    2009-05-01

    We report a combination of precocious pseudopuberty and adrenal insufficiency in a 4 year-old boy who had received an off-label 'appetite stimulant' syrup and excessive virilization in a 2 year-old girl who had received the same medication. Both patients presented with excessive virilization for a period of approximately 1-2 years. The syrup contains cyproheptadine and methandienone, a derivative of testosterone. Both cyproheptadine and methandienone were responsible for severe adrenal suppression in the boy. Methandienone undoubtedly caused precocious virilization in both children. Cessation of the syrup led to partial regression of virilization in both children and normalization of adrenal reserve function in the boy. PMID:19618666

  18. Childhood virilization and adrenal suppression after ingestion of methandienone and cyproheptadine.

    PubMed

    Poomthavorn, Preamrudee; Mahachoklertwattana, Pat; Khlairit, Patcharin

    2009-05-01

    We report a combination of precocious pseudopuberty and adrenal insufficiency in a 4 year-old boy who had received an off-label 'appetite stimulant' syrup and excessive virilization in a 2 year-old girl who had received the same medication. Both patients presented with excessive virilization for a period of approximately 1-2 years. The syrup contains cyproheptadine and methandienone, a derivative of testosterone. Both cyproheptadine and methandienone were responsible for severe adrenal suppression in the boy. Methandienone undoubtedly caused precocious virilization in both children. Cessation of the syrup led to partial regression of virilization in both children and normalization of adrenal reserve function in the boy.

  19. [Analysis of causes contributing to inefficiency of roentgenoendovascular destruction of adrenal glands in hypertensive patients].

    PubMed

    Karimov, Sh I; Tusrsunov, B Z; Sunnatov, R Dzh; Temirov, S N

    2009-01-01

    The study was aimed at bettering therapeutic outcomes for patients suffering from adrenal-aetiology arterial hypertension, with the objective deemed attainable at the expense of revealing and removing the underlying causes potentially contributing to unfavourable results obtained after roentgenoendovascular ablation of the adrenal glands. We retrospectively examined the medical records of 49 patients having undergone hospital treatment within the time frame from 1992 to 2007 for recurrent arterial hypertension poorly controlled by previously endured roentgenoendovascular (REV) interventions. The identified causes contributing heavily to poor clinical outcomes obtained after the REV-ablation procedures appeared to have been as follows: renal parenchymatous diseases in 20 patients having a long history of arterial hypertension with evidence ofnephroangiosclerosis; insufficient devitalisation of the adrenal glands in a further 19 patients; a pheochromocytoma of the right adrenal gland in only one instance; and newly onset renovascular hypertension in the remaining nine subjects. It was determined that poor therapeutic outcomes had primarily been caused by overestimating the indications for performing REV ablation of the adrenal glands, being seemingly wanton as a corrective measure to have been taken in the presence of inflammatory diseases of the renal parenchyma and secondary hyperplasia of the adrenal gland, with the second-in-order contributory cause appearing to be insufficient devitalisation of the adrenal glands afflicted by hyperplasia and/or aldosteroma. The development of renal artery stenosis in the remote period after REV interventions may also be responsible for a relapse of arterial hypertension, which is quite often the case.

  20. Thyroid and adrenal relationships

    PubMed Central

    Parsons, Victor; Ramsay, Ian

    1968-01-01

    A brief review of the actions of adrenal medullary and thyroid hormones is presented and the ways in which they interact are examined. It is concluded that thyroid hormone produces the necessary intracellular environment without which the steady state and emergency actions of cathecholamines would be vitiated. In hyperthyroidism the increased concentration of thyroid hormones results in a lowering of the threshold for catecholamine action. For this reason it is possible to alleviate many of the symptoms of thyrotoxicosis by means of drugs which block β-adrenergic receptors. Attention is also drawn to the simultaneous occurrence of thyroid and adrenal disease, in the hope that this will encourage the search for further links in this field of endocrinology. PMID:5655216

  1. Adrenal Mass in Patients who Underwent Abdominal Computed Tomography Examination

    PubMed Central

    Al-Thani, Hassan; El-Menyar, Ayman; Al-Sulaiti, Marym; ElGohary, Hesham; Al-Malki, Ahmed; Asim, Mohammad; Tabeb, AbdelHakem

    2015-01-01

    Background: Adrenal masses are usually discovered incidentally (IAM) during abdominal computed tomography (CT). Aims: We aimed to describe the prevalence, management, and outcome of incidentally discovered adrenal mass on radiological investigation. Materials and Methods: A retrospective analysis was conducted to look for IAM identified by abdominal CT performed for other reasons between 2004 and 2008 and were followed for 4 years. IAM patients with known malignancy or clinically evident adrenal disease or overt disease originally missed due to insufficient clinical examination were excluded. Results: A total of 13,115 patients underwent abdominal CT, of which 136 were identified with adrenal mass (69 males and 67 females). Overall, 84 patients had benign IAM and six had primary adrenal carcinoma (all had tumor size ≥4 cm and five were males). Hormonal evaluation was performed in 80 cases, which revealed hypersecretion in 10 cases (six had Conn's syndrome and four had pheochromocytoma). Males had higher frequency of right-sided IAMs; whereas, left-sided IAM swere more common among females (P = 0.02). Seven patients underwent surgery and all were males (one Conn's syndrome, one pheochromocytoma, three primary adrenal adenocarcinoma, one benign nonfunctional adenoma, and one metastatic tumor). Only one patient died due to brain metastasis. Conclusion: The overall prevalence of adrenal incidentaloma is 1% in Qatar. Unfortunately, hormonal evaluation, surgical referral, and follow-up are not appropriate in this study. Moreover, screening of IAM warrants more attention to rule out malignancy. This work could be of value as a local auditing for the current management. PMID:26110133

  2. Radioguided Adrenal Surgery

    PubMed Central

    Deus, Javier; Millera, Alfonso; Andrés, Alejandro; Prats, Enrique; Gil, Ismael; Suarez, Manuel; Salcini, José L.; Lahoz, Manuel

    2015-01-01

    Abstract The laparoscopic adrenalectomy is considered as the procedure of choice for the treatment of adrenal hyperplasia and tumor lesions. However, some special situations may limit the use of this method due to the difficulty to locate the gland and perform the lesion excision. We analyze 2 patients of a left adrenal tumor, explaining how they have overcome the difficulties in both situations. The first case was a patient with a history of intra-abdominal surgery and the other patient suffered from severe obesity. We performed with the use of the gamma probe, and the 2 cases, was of great help to access and glandular localization. The help of gamma probe test was achieved in the surgical bed, that removal was complete. The use of the portable gamma probe facilitated the access to the left adrenal gland as well as conducting the glandular excision without delay, despite the difficulties due to the intra abdominal surgery caused by the previous surgery, and in the case of severe obesity. PMID:26426608

  3. [The scintigraphic assessment of the patients suffering from cardia achalasia, treated by pneumatic dilatation].

    PubMed

    Stan, Mărioara; Bălan, G; Rusu, Maria; Ciortescu, Irina; Popa, Florentina

    2002-01-01

    The esophageal scintigraphy is a technique used to evaluate the motility and the clearance of the esophagus. The patients with achalasia of the cardia were evaluated, before treating them with pneumatic dilatation and after. The reason is to evaluate the efficiency of the pneumatic dilatation technique in the treatment of esophageal achalasia. The pneumatic dilatation with an instrument type Rigiflex is a well/handled and used technique in our clinic. In the study 22 patients were included and we had in view the esophageal transit time and the residuary radioactivity before and after the pneumatic dilatation. We established an important statistical improvement of the data obtained after the dilatation comparative with the data before the treatment (p < 0.01). PMID:12638275

  4. Adrenal Schwannoma: A Rare Incidentaloma.

    PubMed

    Kumar, Sumit; Karthikeyan, Vilvapathy S; Manohar, Chikkamoga S; Sreelakshmi, K; Shivalingaiah, Maregowda

    2016-08-01

    Adrenal schwannomas are very rare tumours that are difficult to diagnose preoperatively. A 42-year-old male presented with epigastric pain and indigestion. He had history of repeated operations for recurrent facial swelling on both sides of face diagnosed as Angiolymphoid Hyperplasia with Eosinophilia (ALHE). Physical examination revealed right facial swelling. Laboratory tests showed no evidence of hormonal hypersecretion. CECT abdomen showed a well-defined heterogenously enhancing right adrenal mass (5x4cm). Patient underwent right adrenalectomy. Histopathology revealed adrenal schwannoma, confirmed by immunohistochemistry (IHC) showing diffuse expression of S-100. Fine-needle aspiration biopsy of facial lesion confirmed ALHE recurrence. Less than 35 cases have been reported. Diagnosis of adrenal schwannoma on imaging studies is very difficult and surgical resection when performed for non-functioning adrenal masses >4cm clinches the diagnosis. Adrenal schwannoma is highly uncommon and was incidentally associated with recurrent ALHE. PMID:27656499

  5. Association Between Gastroesophageal Reflux Disease After Pneumatic Balloon Dilatation and Clinical Course in Patients With Achalasia

    PubMed Central

    Min, Yang Won; Lee, Jin Hee; Min, Byung-Hoon; Lee, Jun Haeng; Kim, Jae J; Rhee, Poong-Lyul

    2014-01-01

    Background/Aims The occurrence of gastroesophageal reflux disease (GERD) is known to be associated with lower post-treatment lower esophageal sphincter pressure in patients with achalasia. This study aimed to elucidate whether GERD after pneumatic balloon dilatation (PD) has a prognostic role and to investigate how the clinical course of GERD is. Methods A total of 79 consecutive patients who were first diagnosed with primary achalasia and underwent PD as an initial treatment were included in this retrospective study. Single PD was performed using a 3.0 cm balloon. The patients were divided into two groups: 1) who developed GERD after PD (GERD group) and 2) who did not develop GERD after PD (non-GERD group). GERD was defined as pathological acid exposure, reflux esophagitis or typical reflux symptoms. Results Twenty one patients (26.6%) developed GERD after PD during follow-up. There were no significant differences between the two groups in demographic or clinical factors including pre- and post-treatment manometric results. All patients in GERD group were well responsive to maintenance proton pump inhibitor therapy including on demand therapy or did not require maintenance. During a median follow-up of 17.8 months (interquartile range, 7.1–42.7 months), achalasia recurred in 15 patients (19.0%). However, the incidence of recurrence did not differ according to the occurrence of GERD after PD. Conclusions GERD often occurs after even a single PD for achalasia. However, GERD after PD is well responsive to PPI therapy. Our data suggest that GERD after PD during follow-up does not appear to have a prognostic role. PMID:24840373

  6. Response of Esophagus to High and Low Temperatures in Patients With Achalasia

    PubMed Central

    Ren, Yutang; Fang, Xiucai; Zhu, Liming; Sun, Xiaohong; Wang, Zhifeng; Wang, Ruifeng; Wei, Zhao; Wen, Ping; Xin, Haiwei; Chang, Min

    2012-01-01

    Background/Aims Achalasia patients would feel exacerbated dysphagia, chest pain and regurgitation when they drink cold beverages or eat cold food. But these symptoms would relieve when they drink hot water. Reasons are unknown. Methods Twelve achalasia patients (mean age, 34 ± 10 years; F:M, 3:9) who never had any invasive therapies were chosen from Peking Union Medical College Hospital. They were asked to fill in the questionnaire on eating habits including food temperature and related symptoms and to receive high-resolution manometry examination. The exam was done in 2 separated days, at swallowing room temperature (25℃) then hot (50℃) water, and at room temperature (25℃) then cold (2℃) water, respectively. Parameters associated with esophageal motility were analyzed. Results Most patients (9/12) reported discomfort when they ate cold food. All patients reported no additional discomfort when they ate hot food. Drinking hot water was effective in 5/8 patients who ever tried to relieve chest pain attacks. On manometry, cold water increased lower esophageal sphincter (LES) resting pressure (P = 0.003), and prolonged the duration of esophageal body contraction (P = 0.002). Hot water decreased LES resting pressure and residue pressure during swallow (P = 0.008 and P = 0.002), increased LES relaxation rate (P = 0.029) and shortened the duration of esophageal body contraction (P = 0.003). Conclusions Cold water could increase LES resting pressure, prolong the contraction duration of esophageal body, and exacerbate achalasia symptoms. Hot water could reduce LES resting pressure, assist LES relaxation, shorten the contraction duration of esophageal body and relieve symptoms. Thus achalasia patients are recommended to eat hot and warm food and avoid cold food. PMID:23105999

  7. Systematic review and meta-analysis: Efficacy and safety of POEM for achalasia

    PubMed Central

    Hassan, Cesare; Rosati, Riccardo; Romario, Uberto Fumagalli; Correale, Loredana; Repici, Alessandro

    2015-01-01

    Background Peroral endoscopic esophageal myotomy (POEM) represents a less invasive alternative, as compared with conventional laparoscopic Heller myotomy for treating achalasia patients. In the last years, a number of prospective and retrospective experiences with POEM use for achalasia have been published. Methods Relevant publications in which patients affected by achalasia underwent POEM treatment were identified by PubMed databases for the period 2010 – 2013. From each study, we extracted the number and type of major complications (defined as those requiring any additional medical or surgical intervention). Data were pooled, using random-effects models. Heterogeneity among studies was assessed by using Cochran's Q and the I2 statistic. Results We found 16 studies that provided data on 551 patients. The median surveillance period was 6 months (range: 3–12). The median of mean POEM duration was 156 minutes (range: 42–112). Median myotomy length was 10 cm (range: 6–14). Technical and clinical success were reported in 97% (95% CI: 94–98%) and 93% (407/428; 95% CI: 90–95%). No heterogeneity (I2 = 0%) or publication bias was present in both estimates. When limiting the analysis only to adverse events that require medical or surgical interventions, major adverse events occurred in 14% (95% CI: 11–17%); however, only one patient needed post-POEM surgery (0.2%; 95% CI: 0–0.5%). Conclusions POEM appeared to be a highly feasible and effective endoscopic treatment for achalasia. Despite POEM being apparently associated with relatively high morbidity, most patients are successfully managed conservatively, so that POEM appears as a very safe procedure; however, POEM should only be performed in centers able to treat POEM complications, such as pneumothorax or pneumoperitoneum. PMID:26279840

  8. Self-expandable metal stents for achalasia: Thinking out of the box!

    PubMed Central

    Sioulas, Athanasios D; Malli, Chrysoula; Dimitriadis, George D; Triantafyllou, Konstantinos

    2015-01-01

    Achalasia is a primary motor disorder of the esophagus diagnosed manometrically in the clinical setting of dysphagia to both solids and liquids. Currently established treatment options include pneumatic dilation, laparoscopic Heller myotomy, botulinum toxin injection performed endoscopically, oral agents that relax the lower esophageal sphincter and esophagectomy for refractory, end-stage disease. Despite their effectiveness, a significant proportion of patients eventually relapses and needs retreatment. In this setting, several new techniques are under investigation promising future enrichment of our therapeutic armamentarium for achalasic patients. Among them, peroral endoscopic myotomy and self-expandable metal stents placed across the gastro-esophageal junction represent the most encouraging modalities, as initial studies assessing their efficacy and safety indicate. This review highlights the role of self-expandable metal stents in the management of patients with achalasia. Their possible position in the therapeutic algorithm of achalasia along with established and novel techniques is also assessed. Finally, the need for large prospective randomized trials is underlined in order to elucidate the numerous relevant issues. PMID:25610533

  9. Peroral Endoscopic Myotomy for Treating Achalasia in an Animal Model: A Feasibility Study

    PubMed Central

    Bang, Byoung Wook; Choi, Young Chul; Kwon, Kye Sook; Shin, Yong Woon; Lee, Don Haeng; Kim, Joon Mee

    2013-01-01

    Background/Aims Laparoscopic Heller myotomy with antireflux procedure is considered to be a standard treatment for achalasia. Recently, peroral endoscopic myotomy (POEM) was developed and performed on patients with achalasia. However, there is no report on POEM use in South Korea. The aim of this study was to evaluate the technical feasibility of POEM in a porcine model. Methods POEM was performed on two mini pigs. We performed upper endoscopy under general anesthesia. A submucosal tunnel was created and the circular muscle layer was incised using several knives. The mucosal entry was closed using resolution clips. We performed a follow-up endoscopy and sacrificed the pigs 2 weeks after the POEM. The myotomy site was evaluated grossly and histologically. Results POEM was successfully performed on the two mini pigs. No injuries to any abdominal or mediastinal structures occurred. Two weeks after the POEM, the esophageal mucosa healed without any endoscopic evidence of complications. Necropsy revealed that the circular muscle layer was completely lost and replaced with fibrotic tissue. Conclusions We found that POEM is a technically feasible method which can be performed on an animal model. However, to ensure safe use on patients with achalasia, further studies on technical methods and long-term follow-up examinations are required. PMID:23423311

  10. Peroral endoscopic myotomy for achalasia in patients aged ≥ 65 years

    PubMed Central

    Li, Chen-Jie; Tan, Yu-Yong; Wang, Xue-Hong; Liu, De-Liang

    2015-01-01

    AIM: To investigate the safety and efficacy of peroral endoscopic myotomy (POEM) for achalasia in patients aged ≥ 65 years. METHODS: From November 2011 to August 2014, 15 consecutive patients (aged ≥ 65 years) diagnosed with achalasia were prospectively recruited and all underwent POEM at our institution. Eckardt score, lower esophageal sphincter (LES) pressure, esophageal diameter, SF-36 questionnaire, and procedure-related complications were used to evaluate the outcomes. RESULTS: All 15 patients were treated successfully by POEM, with a median operation time of 55 min. Median myotomy length was 10 cm. Three patients underwent circular myotomy and 12 full-thickness myotomies. Symptoms remitted in all cases during post-POEM follow-up of 6-39 mo. Eckardt score reduced significantly (pre-operation vs post-operation: 8.0 vs 1.0, P < 0.05). Median LES pressure decreased from 27.4 to 9.6 mmHg (P < 0.05). Median diameter of the esophagus was significantly decreased (pre-operation vs post-operation: 51.0 mm vs 30.0 mm, P < 0.05). Only one patient had reflux, which was resolved with oral proton pump inhibitors. No serious complications related to POEM were found. The quality of life of the 15 patients improved significantly after POEM. CONCLUSION: POEM is a safe and effective technique for treatment of achalasia in patients aged ≥ 65 years, with improvement in symptoms and quality of life. PMID:26290645

  11. Etiopathogeny of Primary Adrenal Hypercortisolism.

    PubMed

    Vélayoudom-Céphise, Fritz-Line; Haissaguerre, Magali; Tabarin, Antoine

    2016-01-01

    Primary adrenal hypercortisolism is mainly due to cortisol-producing adrenocortical adenomas, bilateral micronodular or macronodular disease, and adrenal carcinomas. Important advances in the pathophysiology of primary adrenal hypercortisolism have been made in the last few years, partly through the use of new molecular biology tools. Most adrenal abnormalities leading to increased cortisol production involve somatic or germinal mutations of genes encoding elements of the cyclic AMP/protein kinase A signaling pathway, as shown in adrenal adenomas in 2014. One peculiar condition is primary macronodular adrenal hyperplasia (PMAH), which has given rise to new pathophysiological concepts such as regulation of cortisol secretion by illegitimate ligands through aberrant expression of G protein-coupled transmembrane receptors in adrenal nodules and stimulation of cortisol production by local adrenocorticotropic hormone production through autocrine/paracrine mechanisms. These findings provide a basis for the development of targeted therapies as an alternative to surgery. The recent identification of germinal mutations of ARMC5 in PMAH raises the possibility that this is much more frequently an inherited disease than previously suspected. It also offers the possibility of earlier diagnosis of PMAH by genetic screening and, hopefully, of earlier intervention to prevent the onset of hypercortisolism and its complications. The pathophysiology of Cushing's syndrome associated with a subset of adrenal adenomas, including subclinical cortisol-secreting incidentalomas and adrenal carcinomas, remains to be determined. PMID:27212135

  12. Traumatic and non-traumatic adrenal emergencies.

    PubMed

    Chernyak, Victoria; Patlas, Michael N; Menias, Christine O; Soto, Jorge A; Kielar, Ania Z; Rozenblit, Alla M; Romano, Luigia; Katz, Douglas S

    2015-12-01

    Multiple traumatic and non-traumatic adrenal emergencies are occasionally encountered during the cross-sectional imaging of emergency department patients. Traumatic adrenal hematomas are markers of severe polytrauma, and can be easily overlooked due to multiple concomitant injuries. Patients with non-traumatic adrenal emergencies usually present to an emergency department with a non-specific clinical picture. The detection and management of adrenal emergencies is based on cross-sectional imaging. Adrenal hemorrhage, adrenal infection, or rupture of adrenal neoplasm require immediate detection to avoid dire consequences. More often however, adrenal emergencies are detected incidentally in patients being investigated for non-specific acute abdominal pain. A high index of suspicion is required for the establishment of timely diagnosis and to avert potentially life-threatening complications. We describe cross-sectional imaging findings in patients with traumatic and non-traumatic adrenal hemorrhage, adrenal infarctions, adrenal infections, and complications of adrenal masses.

  13. Ectopic adrenal tissue in the thorax: a case report with in situ hybridization and immunohistochemical studies.

    PubMed

    Shigematsu, Kazuto; Toriyama, Kan; Kawai, Kioko; Takahara, Osamu

    2007-01-01

    Ectopic or accessory adrenal tissues are usually found in the upper abdomen or along the path of descent of the gonads. The occurrence of supradiaphragmatic adrenal tissue is extremely rare. We report a case of ectopic adrenal tissue composed of both cortical and medullary cells in a 99-year-old woman. The lesion was found incidentally in the paratracheal region at autopsy. We performed in situ hybridization and immunohistochemistry to confirm that the ectopic adrenal tissue possessed the same steroidogenesis as a normal adrenal gland. The ectopic adrenal tissue was encapsulated by fibrous tissue and composed of cells expressing all steroidogenic enzyme mRNAs. The centrally located cells showed immunoreactivities for tyrosine hydroxylase (TH), dopamine beta hydroxylase (DBH), and phenylethanolamine-N-methyltransferase (PNMT). Expression of ACTH receptor (ACTHR) was also evident. These findings indicated that this ectopic adrenal tissue had the capability for steroid and catecholamine biosynthesis under the control of ACTH, and that it might function adequately even under a condition of bilateral adrenal insufficiency.

  14. IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

    PubMed

    Phillips, Katherine; Arroyo, May R; Duckworth, Lizette Vila

    2014-01-01

    We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells).

  15. High-Resolution Manometry Evaluation of the Pharynx and Upper Esophageal Sphincter Motility in Patients with Achalasia.

    PubMed

    Menezes, Mariano A; Herbella, Fernando A M; Patti, Marco G

    2015-10-01

    The motility of the pharynx and upper esophageal sphincter (UES) is still poorly understood. It is also unclear if the motility of this area may be compromised in patients with achalasia. This study aims to evaluate the motility of the pharynx, UES, and proximal esophagus in patients with esophageal achalasia. Sixty patients with achalasia underwent high-resolution manometry (HRM) (52 % females, mean age 54 years). Esophageal dilatation was classified according to the radiologic diameter in Type I (<4 cm): 6 %; Type II (4-7 cm): 36 %; Type III (7-10 cm): 34 %; and Type IV (>10 cm): 24 %. HRM classified 43 % of the patients as Chicago Type I and 57 % as Type II. Manometric parameters were compared to normal values obtained from a previous study in volunteers. The motility of the velopharynx showed short, premature, and hypertonic contraction. The epiglottis also showed hypertonic contraction. The UES had increased residual pressure. Chicago classification Type II patients had higher UES residual pressure (p = 0.03). The degree of esophageal dilatation did not correlate with manometric parameters. Achalasia may affect the motility of the pharyngo-upper esophageal area. The changes observed may represent functional alterations to prevent aspiration, especially in patients with Chicago classification Type II achalasia.

  16. Primary Ovarian Insufficiency.

    PubMed

    Laven, Joop S E

    2016-07-01

    Primary ovarian insufficiency (POI), also known as premature ovarian failure or premature menopause, is defined as cessation of menstruation before the expected age of menopause. Potential etiologies for POI can be divided into genetic, autoimmune, and iatrogenic categories. This review will try to summarize the genetic basis of POI focusing on recent data that are available using newer genetic techniques such as genome-wide association studies, whole-exome sequencing (WES), or next-generation sequencing techniques. By using these techniques, many genes have arisen that play some role in the pathophysiology of POI. Some of them have been replicated in other studies; however, the majority has not been proven yet to be unequivocally causative through functional validation studies. Elucidating the genetic and molecular basis of POI is of paramount importance not only in understanding ovarian physiology but also in providing genetic counseling and fertility guidance. Once additional variants are detected, it might become possible to predict the age of (premature) menopause in women at risk for POI. Women having certain perturbations of POI can be offered the option of oocyte cryopreservation, with later thawing and use in assisted reproductive technology at an appropriate age. PMID:27513024

  17. Surgery or Peroral Esophageal Myotomy for Achalasia: A Systematic Review and Meta-Analysis.

    PubMed

    Marano, Luigi; Pallabazzer, Giovanni; Solito, Biagio; Santi, Stefano; Pigazzi, Alessio; De Luca, Raffaele; Biondo, Francesco Giuseppe; Spaziani, Alessandro; Longaroni, Maurizio; Di Martino, Natale; Boccardi, Virginia; Patriti, Alberto

    2016-03-01

    To date very few studies with small sample size have compared peroral esophageal myotomy (POEM) with the current surgical standard of care, laparoscopic Heller myotomy (LHM), in terms of efficacy and safety, and no recommendations have been proposed.To investigate the efficacy and safety of POEM compared with LHM, for the treatment of achalasia.The databases of Pubmed, Medline, Cochrane, and Ovid were systematically searched between January 1, 2005 and January 31, 2015, with the medical subject headings (MeSH) and keywords "achalasia," "POEM," "per oral endoscopic myotomy," and "peroral endoscopic myotomy," "laparoscopic Heller myotomy" (LHM), "Heller myotomy."All types of study designs including adult patients with diagnosis of achalasia were selected. Studies that did not report the comparison between endoscopic and surgical treatment, experimental studies in animal models, single case reports, technical reports, reviews, abstracts, and editorials were excluded.The total number of included patients was 486 (196 in POEM group and 290 in LHM group).There were no differences between POEM and LHM in reduction in Eckardt score (MD = -0.659, 95% CI: -1.70 to 0.38, P = 0.217), operative time (MD = -0.354, 95% CI: -1.12 to 0.41, P = 0.36), postoperative pain scores (MD = -1.86, 95% CI: -5.17 to 1.44, P = 0.268), analgesic requirements (MD = -0.74, 95% CI: -2.65 to 1.16, P = 0.445), and complications (OR = 1.11, 95% CI: 0.5-2.44, P = 0.796). Length of hospital stay was significantly lower for POEM (MD = -0.629, 95% CI: -1.256 to -0.002, P = 0.049). There was a trend toward significant reduction in symptomatic gastroesophageal reflux rate in favors of LHM compared to POEM group (OR = 1.81, 95% CI: 1.11-2.95, P = 0.017).All included studied were not randomized. Furthermore all selected studies did not report the results of follow-up longer than 1 year and most of them included patients who were both treatment naive and

  18. [Morphometry of the adrenals].

    PubMed

    Chumachenko, P A

    1977-05-01

    The authors report on the method of determination of the weight indices of the adrenyl gland glomerular, testicular-reticular and medullar zones with a spheroid shape; it is substantiated by mathematical analysis of a plasticine model of the adrenal gland, whose characteristics approached the actual ones. The method was particularly accurate in determination of the weight of the fascicular-reticular and glomerular zones, and less--in determination of the weight of the medullary layer, the method's error being 0.6-0.9% in the first case, 2.7-3.5% in the second and 5.3-6.4 in the last. PMID:884280

  19. Adrenal hemangioma: a case report.

    PubMed

    Auh, Y H; Anand, J; Zirinsky, K; Kazam, E

    1986-01-01

    Adrenal hemangioma is a very rare tumor. Presented is the 18th case proved by autopsy or surgery reported in world literature. The tumor was incidentally discovered at autopsy. Unless this tumor has characteristic calcifications, phlebolith or phlebolithlike, its computed tomography appearance is nonspecific. Therefore, by computed tomography this tumor cannot be differentiated from other primary or secondary adrenal tumors. PMID:3943357

  20. Leiomyosarcoma of the adrenal vein.

    PubMed

    Shao, I-Hung; Lee, Wei-Chen; Chen, Tai-Di; Chiang, Yang-Jen

    2012-01-01

    Leiomyosarcoma of the adrenal gland is extremely rare in the literature. We present a patient with an adrenal leiomyosarcoma originating from the adrenal vein, the pathologic findings and management. A 66-year-old man who was a hepatitis B virus carrier was found to have a huge left suprarenal mass on sonography and computed axial tomography. A huge tumor in the left suprarenal area with a markedly engorged adrenal vein was found during an adrenalectomy. The tumor thrombus extended into the renal vein, close to the inferior vena cava. The left adrenal gland with the whole tumor thrombus was removed completely. Microscopically, the adrenal gland was compressed but not invaded by the spindle cell tumor, which was composed of interlacing fascicles of neoplastic smooth muscle cells. The tumor was localized within the adrenal vein and arose from the venous wall. The patient had no local recurrence for 18 months after en bloc excision of the tumor. We suggest that en bloc excision with a clear and adequate surgical margin is the most important cure procedure for adrenal leiomyosarcoma.

  1. Giant adrenal cyst: case study

    PubMed Central

    Carsote, M; Chirita, P; Terzea, D; Paun, S; Beuran, M

    2010-01-01

    One of the rarest situations regarding an adrenal incidentaloma is an adrenal cyst. We present the case of a 61Z–year old male patient diagnosed with peritonitis. During surgery, a right adrenal tumor of 2 cm is discovered. The patient was referred to endocrinology. 6 months later the diameter of the tumor is 7 times bigger than the initial stage. It has no secretory phenotype, except for the small increase of serum aldosterone and the 24–h 17–ketosteroids. Open right adrenalectomy is performed and a cyst of 15 cm is removed. The evolution after surgery is good. The pathological exam reveals an adrenal cyst with calcifications and osteoid metaplasia. The immunohistochemistry showed a positive reaction for CD34 and ACT in the vessels and VIM in the stroma. The adrenal cysts are not frequent and represent a challenge regarding the preoperative diagnostic and surgical procedure of resection. The pathological exam highlights the major aspects. PMID:20945822

  2. [New method of treating achalasia is now being tested. Minimally Invasive POEM has produced promising results so far].

    PubMed

    Håkanson, Bengt; Tsai, Jon; Kumagai, Koshi; Efendic, Enes; Lundell, Lars; Thorell, Anders

    Achalasia of the cardia is a motor disorder of the esophagus and lower esophageal sphincter with dysphagia as the dominating symptom. The diagnosis is based on esophageal manometry and barium swallow. During work-up dysphagia of other origin should be excluded by endoscopy. Standard treatment of achalasia today is laparoscopic esophagogastromyotomy with partial fundoplication or pneumatic dilatation of the lower esophageal sphincter. POEM (PerOral Endoscopic Myotomy), a new minimally invasive technique, has recently been introduced in Sweden. So far, 45 patients have been treated. POEM is currently being compared with laparoscopic esophagogastromyotomy within a European randomized multicenter study. PMID:25386642

  3. Perspectives on the relationship of adrenal steroids to rheumatoid arthritis.

    PubMed

    Masi, Alfonse T; Chatterton, Robert T; Aldag, Jean C; Malamet, Raymond L

    2002-06-01

    An expanded model of RA is presented that incorporates cumulative multifactorial processes operating over a prolonged physiological phase prior to initial clinical manifestations. During this phase, progressive imbalances in the homeostasis of core neuroendocrine, immunological, and microvascular systems are believed to occur. Normal adrenal function plays an essential role in helping to maintain homeostasis of core systems in health. In RA, chronic adrenal hypocompetence is suspected to occur in a minority subset of females who have younger clinical onset and males who have associated low serum testosterone levels. Chronic, relative glucocorticoid insufficiency is believed to contribute to development of inflammatory manifestations in RA patients. Androgenic deficiencies, particularly of gonadal origin in males, may also contribute to RA, particularly its decreased anabolic features. Precise influences of hypocompetent adrenal steroid function on long-term modeling of the immunological compartment and control of microvascular activation processes are not well understood. These complex mechanisms need to be elucidated for better understanding of the physiopathogenesis of RA. Nevertheless, at a clinical level, sufficient data are currently available to endorse further controlled studies of early clinical onset patients and prospective investigations to determine more definitively the roles of adrenal (and gonadal) steroids in subsets of RA patients and unaffected susceptible persons in the population.

  4. Megaesophagus in a Line of Transgenic Rats: A Model of Achalasia

    PubMed Central

    Pang, J.; Borjeson, T. M.; Muthupalani, S.; Ducore, R. M.; Carr, C. A.; Feng, Y.; Sullivan, M. P.; Cristofaro, V.; Luo, J.; Lindstrom, J. M.; Fox, J. G.

    2015-01-01

    Megaesophagus is defined as the abnormal enlargement or dilatation of the esophagus, characterized by a lack of normal contraction of the esophageal walls. This is called achalasia when associated with reduced or no relaxation of the lower esophageal sphincter (LES). To date, there are few naturally occurring models for this disease. A colony of transgenic (Pvrl3-Cre) rats presented with megaesophagus at 3 to 4 months of age; further breeding studies revealed a prevalence of 90% of transgene-positive animals having megaesophagus. Affected rats could be maintained on a total liquid diet long term and were shown to display the classic features of dilated esophagus, closed lower esophageal sphincter, and abnormal contractions on contrast radiography and fluoroscopy. Histologically, the findings of muscle degeneration, inflammation, and a reduced number of myenteric ganglia in the esophagus combined with ultrastructural lesions of muscle fiber disarray and mitochondrial changes in the striated muscle of these animals closely mimic that seen in the human condition. Muscle contractile studies looking at the response of the lower esophageal sphincter and fundus to electrical field stimulation, sodium nitroprusside, and L-nitro-L-arginine methyl ester also demonstrate the similarity between megaesophagus in the transgenic rats and patients with achalasia. No primary cause for megaesophagus was found, but the close parallel to the human form of the disease, as well as ease of care and manipulation of these rats, makes this a suitable model to better understand the etiology of achalasia as well as study new management and treatment options for this incurable condition. PMID:24457157

  5. Per-Oral Endoscopic Myotomy Versus Laparoscopic Heller Myotomy for Achalasia

    PubMed Central

    Zhang, Yuan; Wang, Hongjuan; Chen, Xingdong; Liu, Lan; Wang, Hongbo; Liu, Bin; Guo, Jianqiang; Jia, Hongying

    2016-01-01

    Abstract We aimed to assess the short-term outcomes of per-oral endoscopic myotomy (POEM) compared with laparoscopic Heller myotomy (LHM) for achalasia through a meta-analysis of nonrandomized comparative studies. We searched PubMed, Embase, Medline, Cochrane Library, and Google Scholar for studies that compared POEM and LHM for achalasia and were published between January 1, 2008 and December 31, 2014. The Methodological Index for Nonrandomized Studies (MINORS) was used to evaluate the quality of the studies. Random- and fixed-effects meta-analytical models were used, and between-study heterogeneity was assessed. Four nonrandomized comparative studies that included 317 patients (125 in the POEM group and 192 in the LHM group) met our research criteria and were assessed. There were no differences between the POEM and LHM groups in terms of sex, preoperative Eckhart score, length of myotomy, operation time, length of hospital stay, and complications. The patients in the POEM group were older than those in the LHM group (MD =2.81, 95% CI 0.27–5.35; P = 0.03) with high between-study homogeneity (χ2 = 1.96, df = 2, I2 = 0%; P = 0.38). The patients in the POEM group had a lower Eckardt score after surgery compared with those in the LHM group (MD = −0.30, 95% CI −0.42 to −0.18; P < 0.001) with high between-study homogeneity (χ2 = 0.00, df = 1, I2 = 0%; P = 1.00). The efficacy and safety of POEM appear to be comparable to those of LHM. Multicenter and randomized trials with larger sample size are needed to further compare the efficacy and safety of POEM and LHM for the treatment of achalasia. PMID:26871816

  6. Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

    PubMed Central

    Polizzi, Agata; Di Rosa, Gabriella; Romeo, Anna Claudia; Dipasquale, Valeria; Chirico, Valeria; Arrigo, Teresa; Ruggieri, Martino

    2014-01-01

    Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case-studies and case-series we focused on the pathophysiological and clinical implications of glucocorticoid-related, mineralcorticoid-related, and catecholamine-related paediatric nervous system involvement. Childhood Cushing syndrome can be associated with long-lasting cognitive deficits and abnormal behaviour, even after resolution of the hypercortisolism. Exposure to excessive replacement of exogenous glucocorticoids in the paediatric age group (e.g., during treatments for adrenal insufficiency) has been reported with neurological and magnetic resonance imaging (MRI) abnormalities (e.g., delayed myelination and brain atrophy) due to potential corticosteroid-related myelin damage in the developing brain and the possible impairment of limbic system ontogenesis. Idiopathic intracranial hypertension (IIH), a disorder of unclear pathophysiology characterised by increased cerebrospinal fluid (CSF) pressure, has been described in children with hypercortisolism, adrenal insufficiency, and hyperaldosteronism, reflecting the potential underlying involvement of the adrenal-brain axis in the regulation of CSF pressure homeostasis. Arterial hypertension caused by paediatric adenomas or tumours of the adrenal cortex or medulla has been associated with various hypertension-related neurological manifestations. The development and maturation of the central nervous system (CNS) through childhood is tightly regulated by intrinsic, paracrine, endocrine, and external modulators, and perturbations in any of these factors, including those related to adrenal hormone imbalance, could result in consequences that affect the structure and function of the paediatric brain. Animal experiments and clinical studies demonstrated that the developing (i.e., paediatric) CNS seems to be particularly vulnerable to alterations induced by adrenal

  7. Adrenal Gland Disorders: Condition Information

    MedlinePlus

    ... of salt and water Controlling the "fight or flight" response to stress Maintaining pregnancy Initiating and controlling ... overview of the adrenal glands: Beyond fight or flight . Retrieved June 29, 2012 from http://www.endocrineweb. ...

  8. Adrenal-derived 11-Oxygenated 19-Carbon Steroids are the Dominant Androgens in Classic 21-Hydroxylase Deficiency

    PubMed Central

    Turcu, Adina F.; Nanba, Aya T.; Chomic, Robert; Upadhyay, Sunil K.; Giordano, Thomas J.; Shields, James J.; Merke, Deborah P.; Rainey, William E.; Auchus, Richard J.

    2016-01-01

    Objective To comprehensively characterize androgens and androgen precursors in classic 21-hydroxylase deficiency (21OHD) and to gain insight to the mechanisms of their formation. Design Serum samples were obtained from 38 patients (19 men) with classic 21OHD, age 3-59, and 38 sex- and age-matched controls; 3 patients with 11β-hydroxylase deficiency; 4 patients with adrenal insufficiency; and 16 patients (8 men) undergoing adrenal vein sampling. Paraffin-embedded normal (n=5) and 21OHD adrenal tissue (n=3) was used for immunohistochemical studies. Methods We measured 11 steroids in all sera using liquid chromatography-tandem mass spectrometry. Immunofluroescence localized 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) within the normal and 21OHD adrenals. Results Four 11-oxygenated 19-carbon (11oxC19) steroids were significantly higher in male and female 21OHD patients than in controls: 11β-hydroxyandrostenedione, 11-ketoandrostenedione 11β-hydroxytestosterone, and 11-ketotestosterone (3-4-fold, p< 0.0001). For 21OHD patients, testosterone and 11-ketotestosterone were positively correlated in females, but inversely correlated in males. All 11oxC19 steroids were higher in adrenal vein than in inferior vena cava samples from men and women and rose with cosyntropin stimulation. Only trace amounts of 11oxC19 steroids were found in sera from patients with 11β-hydroxylase deficiency and adrenal insufficiency, confirming their adrenal origin. HSD3B2 and CYB5A immunoreactivities were sharply segregated in the normal adrenal glands, whereas areas of overlapping expression were identified in the 21OHD adrenals. Conclusions All four 11oxC19 steroids are elevated in both men and women with classic 21OHD. Our data suggest that 11oxC19 steroids are specific biomarkers of adrenal-derived androgen excess. PMID:26865584

  9. Laparoscopic Resection of Adrenal Teratoma

    PubMed Central

    Vitagliano, Gonzalo; Villeta, Matias; Arellano, Leonardo; Santis, Oscar

    2006-01-01

    Background: Teratoma is a germ-cell tumor that commonly affects the gonads. Its components originate in the ectoderm, endoderm, and mesoderm. Extragonadal occurrence is rare. Teratomas confined to the adrenal gland are exceptional; only 3 cases have been reported in the English-language literature. We report 2 cases of mature teratomas of the adrenal gland that were laparoscopically excised. Methods: Two patients (ages 8 and 61 years) were diagnosed with adrenal teratoma at our institution. Radiological examination showed a solid 8-cm adrenal lesion in both cases. Hormonal assessment was normal. Both patients underwent laparoscopic transperitoneal adrenalectomy. Results: Surgical time was 120 minutes and 50 minutes, respectively. One patient was discharged on postoperative day 2, and the other remained hospitalized until day 10. The latter patient required percutaneous drainage of a retroperitoneal collection. Both tumors were identified as mature cystic teratomas. No evidence was present of recurring disease in either patient. Conclusions: Adrenal teratoma is rare. Laparoscopic transperitoneal adrenalectomy is a feasible, effective technique that enables excellent oncologic results. To our knowledge, this is the first report of laparoscopic adrenalectomy for pure adrenal teratoma. PMID:17575773

  10. Nifedipine for the poor-risk elderly patient with achalasia: objective response demonstrated by solid meal study

    SciTech Connect

    Thomas, E.; Lebow, R.A.; Gubler, R.J.; Bryant, L.R.

    1984-03-01

    We described an 84-year-old woman with symptomatic achalasia who refused both dilation and surgical treatment. She was treated with the calcium channel blocking drug nifedipine, with significant relief of symptoms. Objective evidence of response to the drug was confirmed by using an egg salad sandwich meal labeled with 99mTc-DTPA.

  11. Outcomes of Minimally Invasive Myotomy for the Treatment of Achalasia in the Elderly

    PubMed Central

    Craft, Randall O.; Aguilar, Brenda E.; Flahive, Colleen; Merritt, Marianne V.; Chapital, Alyssa B.; Schlinkert, Richard T.; Harold, Kristi L.

    2010-01-01

    Background: An increasing number of elderly patients diagnosed with achalasia are being referred for minimally invasive myotomy. Little data are available about the operative outcomes in this population. The objective of this study was to review our experience with this procedure in an elderly population. Methods: A retrospective review was performed of 51 consecutive patients, 65 years of age or older, diagnosed with achalasia who underwent a minimally invasive myotomy at our institution. Prior therapies, perioperative outcomes, and postoperative interventions were also analyzed. Results: Of the 51 patients, 28 (55%) had undergone prior endoscopic therapy, and 2 patients (7%) had a prior myotomy. Mean duration of symptoms was 10.9 years (range, 0.5 to 50). No perioperative mortality occurred, and the median hospital stay was 3 days. Two patients (3.8%) had complications, including a gastric mucosal injury and one atelectasia. Eleven patients (21%) required additional therapy postoperatively. Symptom improvement was described in all patients. Conclusion: Laparoscopic Heller myotomy can safely be performed in elderly patients, providing significant symptom relief. No evidence suggests that surgery should not be considered a first-line treatment. Advanced age does not appear to adversely affect outcomes of laparoscopic Heller myotomy. PMID:21333185

  12. Imaging in the Evaluation of Endoscopic or Surgical Treatment for Achalasia

    PubMed Central

    Palladino, Diego; Mardighian, Andrea; D'Amora, Marilina; Roberto, Luca; Lassandro, Francesco; Rossi, Claudia; Gatta, Gianluca; Scaglione, Mariano; Giuseppe, Guglielmi

    2016-01-01

    Purpose. Aim of the study is to evaluate the efficacy of the endoscopic (pneumatic dilation) versus surgical (Heller myotomy) treatment in patients affected by esophageal achalasia using barium X-ray examination of the digestive tract performed before and after the treatment. Materials and Methods. 19 patients (10 males and 9 females) were enrolled in this study; each patient underwent a barium X-ray examination to evaluate the esophageal diameter and the height of the barium column before and after endoscopic or surgical treatment. Results. The mean variation of oesophageal diameter before and after treatment is −2.1 mm for surgery and 1.74 mm for pneumatic dilation (OR 0.167, CI 95% 0.02–1.419, and P: 0.10). The variations of all variables, with the exception of the oesophageal diameter variation, are strongly related to the treatment performed. Conclusions. The barium X-ray study of the digestive tract, performed before and after different treatment approaches, demonstrates that the surgical treatment has to be considered as the treatment of choice of achalasia, reserving endoscopic treatment to patients with high operative risk and refusing surgery. PMID:26819603

  13. Imaging in the Evaluation of Endoscopic or Surgical Treatment for Achalasia.

    PubMed

    Palladino, Diego; Mardighian, Andrea; D'Amora, Marilina; Roberto, Luca; Lassandro, Francesco; Rossi, Claudia; Gatta, Gianluca; Scaglione, Mariano; Giuseppe, Guglielmi

    2016-01-01

    Purpose. Aim of the study is to evaluate the efficacy of the endoscopic (pneumatic dilation) versus surgical (Heller myotomy) treatment in patients affected by esophageal achalasia using barium X-ray examination of the digestive tract performed before and after the treatment. Materials and Methods. 19 patients (10 males and 9 females) were enrolled in this study; each patient underwent a barium X-ray examination to evaluate the esophageal diameter and the height of the barium column before and after endoscopic or surgical treatment. Results. The mean variation of oesophageal diameter before and after treatment is -2.1 mm for surgery and 1.74 mm for pneumatic dilation (OR 0.167, CI 95% 0.02-1.419, and P: 0.10). The variations of all variables, with the exception of the oesophageal diameter variation, are strongly related to the treatment performed. Conclusions. The barium X-ray study of the digestive tract, performed before and after different treatment approaches, demonstrates that the surgical treatment has to be considered as the treatment of choice of achalasia, reserving endoscopic treatment to patients with high operative risk and refusing surgery. PMID:26819603

  14. Association of High-Resolution Manometry Metrics with the Symptoms of Achalasia and the Symptomatic Outcomes of Peroral Esophageal Myotomy

    PubMed Central

    Tang, Yurong; Xie, Chen; Wang, Meifeng; Jiang, Liuqin; Shi, Ruihua; Lin, Lin

    2015-01-01

    Background High-resolution manometry (HRM) has improved the accuracy of manometry in detecting achalasia and has helped distinguish between clinically relevant subtypes. This study investigated whether HRM metrics correlate with the achalasia symptoms and symptomatic outcomes of peroral esophageal myotomy (POEM). Methods Of the 30 patients who were enrolled, 25 were treated with POEM, 12 of who underwent HRM after 3 months. All the patients completed the Eckardt score questionnaires, and those who underwent POEM were followed up for about 6 months. Pearson correlation was used to assess the relationship between the HRM metrics and symptoms and outcomes. Key results The integrated relaxation pressure (IRP) score positively correlated with the total Eckardt score, regurgitation score and weight loss score in all the patients, and with the weight loss score in type I achalasia. In 25 patients (10 patients, type I; 15 patients, type II) who underwent POEM, the total Eckardt scores and individual symptom scores significantly decreased after surgery. Changes in the Eckardt scores were similar between type I and type II. Further, the Eckardt scores and weight loss score changes were positively correlated with baseline IRP. Twelve patients (4 patients, type I; 8 patients, type II) underwent HRM again after POEM. IRP changed significantly after POEM, as did the DEP in type II. The IRP changes after POEM were positively correlated with the Eckardt score changes. Conclusions & Inferences IRP is correlated with the symptoms and outcomes of achalasia patients. Thus, HRM is effective for assessing the severity of achalasia and can predict the efficacy of POEM. PMID:26421919

  15. Efficacy of peroral endoscopic myotomy vs other achalasia treatments in improving esophageal function

    PubMed Central

    Sanaka, Madhusudhan R; Hayat, Umar; Thota, Prashanthi N; Jegadeesan, Ramprasad; Ray, Monica; Gabbard, Scott L; Wadhwa, Neha; Lopez, Rocio; Baker, Mark E; Murthy, Sudish; Raja, Siva

    2016-01-01

    AIM: To assess and compare the esophageal function after peroral endoscopic myotomy (POEM) vs other conventional treatments in achalasia. METHODS: Chart review of all achalasia patients who underwent POEM, laparoscopic Heller myotomy (LHM) or pneumatic dilation (PD) at our institution between January 2012 and March 2015 was performed. Patient demographics, type of achalasia, prior treatments, pre- and post-treatment timed barium swallow (TBE) and high-resolution esophageal manometry (HREM) findings were compared between the three treatment groups. Patients who had both pre- and 2 mo post-treatment TBE or HREM were included in the final analysis. TBE parameters compared were barium column height, width and volume of barium remaining at 1 and 5 min. HREM parameters compared were basal lower esophageal sphincter (LES) pressures and LES-integrated relaxation pressures (IRP). Data are presented as mean ± SD, median [25th, 75th percentiles] or frequency (percent). Analysis of variance, Kruskal-Wallis test, Pearsons χ2 test and Fishers Exact tests were used for analysis. RESULTS: A total of 200 achalasia patients were included of which 36 underwent POEM, 22 underwent PD and 142 underwent LHM. POEM patients were older (55.4 ± 16.8 years vs 46.5 ± 15.7 years, P = 0.013) and had higher BMI than LHM (29.1 ± 5.9 kg/m2 vs 26 ± 5.1 kg/m2, P = 0.012). More number of patients in POEM and PD groups had undergone prior treatments compared to LHM group (72.2% vs 68.2% vs 44.3% respectively, P = 0.003). At 2 mo post-treatment, all TBE parameters including barium column height, width and volume remaining at 1 and 5 min improved significantly in all three treatment groups (P = 0.01 to P < 0.001) except the column height at 1 min in PD group (P = 0.11) . At 2 mo post-treatment, there was significant improvement in basal LES pressure and LES-IRP in both LHM (40.5 mmHg vs 14.5 mmHg and 24 mmHg vs 7.1 mmHg respectively, P < 0.001) and POEM groups (38.7 mmHg vs 11.4 mmHg and 23.6 mm

  16. New insights into the controversy of adrenal function during critical illness.

    PubMed

    Boonen, Eva; Bornstein, Stefan R; Van den Berghe, Greet

    2015-10-01

    Critical illness represents a life-threatening disorder necessitating recruitment of defence mechanisms for survival. Herein, the hypothalamic-pituitary-adrenal axis is essential. However, the relevance of a relative insufficiency of the hypothalamic-pituitary-adrenal axis in critical illness, which is diagnosed by a suppressed cortisol response to exogenous adrenocorticotropic hormone (ACTH) irrespective of the plasma cortisol concentration, is controversial. Findings from several studies have provided insights that clarify at least part of this controversy. Rather than an activated hypothalamic-pituitary-adrenal axis, ACTH-independent regulators have been reported to contribute to increased cortisol availability during critical illness. One of these regulators is reduced cortisol breakdown, mediated by suppressed expression and activity of cortisol metabolising enzymes in the liver and kidneys. This downstream mechanism increases concentrations of plasma cortisol, but the ensuing feedback-inhibited ACTH release, when sustained for more than 1 week, has been shown to negatively affect adrenocortical integrity and function. Reduced adrenocortical ACTH signalling could explain reduced cortisol responses to exogenous ACTH. Whether such reduced cortisol responses in the presence of raised plasma (free) cortisol identifies adrenal failure needing treatment is unlikely. Additionally, reduced cortisol breakdown affects the optimum dose of hydrocortisone treatment during critical illness. Identification of patients with an insufficient hypothalamic-pituitary-adrenal axis response and the optimum treatment for this disorder clearly need more well designed preclinical and clinical studies. PMID:26071883

  17. New insights into the controversy of adrenal function during critical illness.

    PubMed

    Boonen, Eva; Bornstein, Stefan R; Van den Berghe, Greet

    2015-10-01

    Critical illness represents a life-threatening disorder necessitating recruitment of defence mechanisms for survival. Herein, the hypothalamic-pituitary-adrenal axis is essential. However, the relevance of a relative insufficiency of the hypothalamic-pituitary-adrenal axis in critical illness, which is diagnosed by a suppressed cortisol response to exogenous adrenocorticotropic hormone (ACTH) irrespective of the plasma cortisol concentration, is controversial. Findings from several studies have provided insights that clarify at least part of this controversy. Rather than an activated hypothalamic-pituitary-adrenal axis, ACTH-independent regulators have been reported to contribute to increased cortisol availability during critical illness. One of these regulators is reduced cortisol breakdown, mediated by suppressed expression and activity of cortisol metabolising enzymes in the liver and kidneys. This downstream mechanism increases concentrations of plasma cortisol, but the ensuing feedback-inhibited ACTH release, when sustained for more than 1 week, has been shown to negatively affect adrenocortical integrity and function. Reduced adrenocortical ACTH signalling could explain reduced cortisol responses to exogenous ACTH. Whether such reduced cortisol responses in the presence of raised plasma (free) cortisol identifies adrenal failure needing treatment is unlikely. Additionally, reduced cortisol breakdown affects the optimum dose of hydrocortisone treatment during critical illness. Identification of patients with an insufficient hypothalamic-pituitary-adrenal axis response and the optimum treatment for this disorder clearly need more well designed preclinical and clinical studies.

  18. Science review: Mechanisms of impaired adrenal function in sepsis and molecular actions of glucocorticoids

    PubMed Central

    Prigent, Hélène; Maxime, Virginie; Annane, Djillali

    2004-01-01

    This review describes current knowledge on the mechanisms that underlie glucocorticoid insufficiency in sepsis and the molecular action of glucocorticoids. In patients with severe sepsis, numerous factors predispose to glucocorticoid insufficiency, including drugs, coagulation disorders and inflammatory mediators. These factors may compromise the hypothalamic–pituitary axis (i.e. secondary adrenal insufficiency) or the adrenal glands (i.e. primary adrenal failure), or may impair glucocorticoid access to target cells (i.e. peripheral tissue resistance). Irreversible anatomical damages to the hypothalamus, pituitary, or adrenal glands rarely occur. Conversely, transient functional impairment in hormone synthesis may be a common complication of severe sepsis. Glucocorticoids interact with a specific cytosolic glucocorticoid receptor, which undergoes conformational changes, sheds heat shock proteins and translocates to the nucleus. Glucocorticoids may also interact with membrane binding sites at the surface of the cells. The molecular action of glucocorticoids results in genomic and nongenomic effects. Direct and indirect transcriptional and post-transcriptional effects related to the cytosolic glucocorticoid receptor account for the genomic effects. Nongenomic effects are probably subsequent to cytosolic interaction between the glucocorticoid receptor and proteins, or to interaction between glucocorticoids and specific membrane binding sites. PMID:15312206

  19. Compensatory adrenal growth - A neurally mediated reflex

    NASA Technical Reports Server (NTRS)

    Dallman, M. F.; Engeland, W. C.; Shinsako, J.

    1976-01-01

    The responses of young rats to left adrenalectomy or left adrenal manipulation were compared to surgical sham adrenalectomy in which adrenals were observed but not touched. At 12 h right adrenal wet weight, dry weight, DNA, RNA, and protein content were increased (P less than 0.05) after the first two operations. Left adrenal manipulation resulted in increased right adrenal weight at 12 h but no change in left adrenal weight. Sequential manipulation of the left adrenal at time 0 and the right adrenal at 12 h resulted in an enlarged right adrenal at 12 h (P less than 0.01), and an enlarged left adrenal at 24 h (P less than 0.05), showing that the manipulated gland was capable of response. Bilateral adrenal manipulation of the adrenal glands resulted in bilateral enlargement of 12 h (P less than 0.01). Taken together with previous results, these findings strongly suggest that compensatory adrenal growth is a neurally mediated reflex.

  20. Autonomic control of adrenal function.

    PubMed Central

    Edwards, A V; Jones, C T

    1993-01-01

    Recent studies of adrenal function in conscious calves are reviewed. These have involved collecting the whole of the adrenal effluent blood from the right adrenal gland at intervals and, where necessary, prior functional hypophysectomy by destruction of the pituitary stalk under general halothane anaesthesia 3 d previously. The adrenal medulla was found to release numerous neuropeptides, in addition to catecholamines, in response to stimulation of the peripheral end of the right splanchnic nerve, which was carried out below behavioural threshold. Many of these responses were enhanced by stimulating intermittently at a relatively high frequency. Intra-aortic infusions of a relatively low dose of acetylcholine (4.5 nmol min-1 kg-1) elicited similar responses. In the adrenal cortex, agonists which either potentiated the steroidogenic response to ACTH or exerted a direct steroidogenic action included VIP, CGRP, CRF and ACh acting via muscarinic receptors. Stimulation of the peripheral end of the right splanchnic nerve strongly potentiated the steroidogenic response to ACTH and there is compelling evidence that the innervation normally plays an important part in cortisol secretion. PMID:8300417

  1. Rare association of adrenal tumors.

    PubMed

    Tica, Irjna; Tica, V I; Mihailov, Claudia

    2007-01-01

    Adrenal incidentalomas represent a true problem both in the clinical diagnosis and in their treatment. A great variety of pathologies may be found under the umbrella of this concept: benign adenomas - functioning or not, myelolipomas, hamartomas, or granulomatous infiltrations of the adrenal. The possibility of malignancy should be considered in each case, especially in patients with a known extra-adrenal primary. In true incidentalomas, size appears to be predictive of malignancy. We present an interesting case because of the surprising association of two adrenal tumors, with a long time lapse between them, with ascites and pleurisy and because of the difficulty of treatment in a patient refusing surgery. We did not find such an association in the medical literature. Miss MR, 61 years old, was treated surgically for pheochromocytoma 28 years ago (left adrenalectomy). She was diagnosed in the past with peritoneal carcinomatosis; paraneoplastic left pleurisy, chronic hepatitis of unknown etiology. She presented at admission cashexia, pallor, signs of left pleural effusion and of ascites, hearts beats and blood pressure within normal limits. Investigations were performed including hormonal tests, ultrasound investigation, hepatic tests, and CT scan but no specific tumour markers. A right adrenal incidentaloma of 21/15 mm - in association with ascites and pleurisy - was found at CT scan. Diagnostic problems are discussed because the patient refused surgery, so no pathological examination was available.

  2. The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans.

    PubMed

    Becker, Jessica; Haas, Stephan L; Mokrowiecka, Anna; Wasielica-Berger, Justyna; Ateeb, Zeeshan; Bister, Jonna; Elbe, Peter; Kowalski, Marek; Gawron-Kiszka, Magdalena; Majewski, Marek; Mulak, Agata; Janiak, Maria; Wouters, Mira M; Schwämmle, Till; Hess, Timo; Veits, Lothar; Niebisch, Stefan; Santiago, José L; de León, Antonio Ruiz; de la Serna, Julio Pérez; Urcelay, Elena; Annese, Vito; Latiano, Anna; Fumagalli, Uberto; Rosati, Riccardo; Laghi, Luigi; Cuomo, Rosario; Lenze, Frank; Sarnelli, Giovanni; Müller, Michaela; von Rahden, Burkhard Ha; Wijmenga, Cisca; Lang, Hauke; Czene, Kamila; Hall, Per; de Bakker, Paul Iw; Vieth, Michael; Nöthen, Markus M; Schulz, Henning G; Adrych, Krystian; Gąsiorowska, Anita; Paradowski, Leszek; Wallner, Grzegorz; Boeckxstaens, Guy E; Gockel, Ines; Hartleb, Marek; Kostic, Srdjan; Dziurkowska-Marek, Anna; Lindblad, Mats; Nilsson, Magnus; Knapp, Michael; Thorell, Anders; Marek, Tomasz; Dąbrowski, Andrzej; Małecka-Panas, Ewa; Schumacher, Johannes

    2016-08-01

    Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQβ1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQβ1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central Europe, Italy, Spain, Poland and Sweden - the insertion is achalasia associated with Pcombined=1.67 × 10(-35). In addition, we observe that the frequency of the insertion shows a geospatial north-south gradient. The insertion is less common in northern (around 6-7% in patients and 2% in controls from Sweden and Poland) compared with southern Europeans (~16% in patients and 8% in controls from Italy) and shows a stronger attributable risk in the southern European population. Our study provides evidence that the prevalence of achalasia may differ between populations. PMID:26733285

  3. [Travel and chronic respiratory insufficiency].

    PubMed

    Bonnet, D; Marotel, C; Miltgen, J; N'Guyen, G; Cuguilliere, A; L'Her, P

    1997-01-01

    Changes in climate, altitude and lifestyle during travel confronts patients presenting chronic respiratory insufficiency with special problems. A major challenge is related to high altitude during air travel. To limit risks, a preflight examination is necessary to ascertain respiratory status. Patients requiring oxygen therapy must ensure availability both during the flight and at the destination. Patients with asthma or chronic bronchitis must bring along a sufficient supply of usual inhalers. All patients should carry a doctor's letter describing their condition and listing medications. Using these elementary precautions, patients with chronic respiratory insufficiency can safely enjoy sightseeing and outdoor leisure activities.

  4. Poorly-controlled acromegaly accompanied by subclinical adrenal Cushing's syndrome after surgery for multiple endocrine tumors.

    PubMed

    Ishikawa, Motoko; Kato, Masako; Sasaki, Hiroshi; Morii, Tsukasa; Fujita, Hiroki; Kakei, Masafumi; Narita, Takuma; Yamada, Yuichiro

    2015-01-01

    A 48-year-old woman diagnosed with acromegaly 21 years earlier presented at our hospital with a left adrenal tumor. Her medical history included breast cancer, thyroid cancer and an incompletely resected growth hormone (GH)-producing pituitary adenoma. Endocrinological and radiological examinations revealed subclinical adrenal Cushing's syndrome. She subsequently underwent left adrenalectomy, followed by glucocorticoid replacement therapy. Her GH and insulin-like growth factor-1 levels were insufficiently controlled, and pegvisomant was administered in addition to octreotide acetate. Following adrenalectomy, a giant hepatic hemangioma and papillary thyroid carcinoma in the residual right lobe developed, indicating the high risk of tumor development in patients with acromegaly.

  5. Adrenal oncoctyoma of uncertain malignant potential: a rare etiology of adrenal incidentaloma.

    PubMed

    Kedia, Rohit R; Muinov, Lucy; Lele, Subodh M; Shivaswamy, Vijay

    2016-03-01

    A rare cause for rapid adrenal enlargement is adrenal oncocytoma of uncertain malignant potential. A full biochemical evaluation is warranted to screen secreting adrenal adenomas as well as to evaluate adrenal cortical carcinoma. Careful pathologic evaluation is required as the diagnosis of AOC cannot be made by imaging. PMID:27014458

  6. Giant adrenal cyst displacing the right kidney.

    PubMed

    Chodisetti, Subbarao; Boddepalli, Yogesh; Kota, Malakondareddy

    2016-01-01

    Adrenal cysts are rare and should be considered in the differential diagnosis of retroperitoneal cysts. We present a case of a huge adrenal cyst displacing the right kidney anteriorly toward the left side in a young female.

  7. Cushing syndrome due to adrenal tumor

    MedlinePlus

    Adrenal tumor - Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ... or cancerous (malignant). Noncancerous tumors that can cause ... Adrenal adenomas Micronodular hyperplasia Cancerous tumors that ...

  8. Adrenal cortex dysfunction: CT findings

    SciTech Connect

    Huebener, K.H.; Treugut, H.

    1984-01-01

    The computed tomographic appearance of the adrenal gland was studied in 302 patients with possible endocrinologic disease and 107 patients undergoing CT for nonendocrinologic reasons. Measurements of adrenal size were also made in 100 adults with no known adrenal pathology. CT proved to be a sensitive diagnostic tool in combination with clinical studies. When blood hormone levels are increased, CT can differentiate among homogeneous organic hyperplasia, nodular hyperplasia, benign adenoma, and malignant cortical adenoma. When blood hormone levels are decreased, CT can demonstrate hypoplasia or metastatic tumorous destruction. Calcifications can be demonstrated earlier than on plain radiographs. When hormone elimination is increased, the morphologic substrate can be identified; tumorous changes can be localized and infiltration of surrounding organs recognized.

  9. Spontaneous adrenal haemorrhage in pregnancy

    PubMed Central

    A, Anagnostopoulos; S, Sharma

    2011-01-01

    The authors present a case of spontaneous adrenal haemorrhage, in a 28-year-old woman at 36 weeks of a twin pregnancy. Initial symptom was sudden onset chest pain which soon migrated to abdomen, accompanied by hypovolaemic shock and fetal bradycardia. Subsequent caesarean section for suspected placental abruption and resuscitation with nine units of blood, 10 of cryoprecipitate, four of fresh frozen plasma and two of platelets, in order to treat anaemia of Hgb of 3.6 g/dl and disseminated intravascular coagulation, failed to stabilise the woman. A CT scan of abdomen and pelvis then revealed a 15×17×17 cm retroperitoneal haematoma, secondary to right adrenal haemorrhage. Management was with laparotomy drainage and packing of the retroperitoneal haematoma along with the use of activated factor VII. Adrenal haemorrhage in pregnancy is an extremely rare, acute, life-threatening condition, presenting with non-specific symptoms. PMID:22679231

  10. Control of adrenal androgen production.

    PubMed

    Odell, W D; Parker, L N

    The major adrenal androgens are dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulphate (DHEAS) and androstenedione (delta 4). Studies by Cutler et al in 1978 demonstrated that these androgens are detectable in blood of all domestic and laboratory animals studied, but that only 4 species show increase in one or more with sexual maturation: rabbit, dog, chimpanzee and man. Studies by Grover and Odell in 1975 show these androgens do not bind to the androgen receptor obtained from rat prostate and thus probably are androgens only by conversion to an active androgen in vivo. Thomas and Oake in 1974 showed human skin converted DHEA to testosterone. The control of adrenal androgen secretion is in part modulated by ACTH. However, other factors or hormones must exist also, for a variety of clinical observations show dissociation in adrenal androgen versus cortisol secretion. Other substances that have been said to be controllers of adrenal androgen secretion include estrogens, prolactin, growth hormone, gonadotropins and lipotropin. None of these appear to be the usual physiological modulator, although under some circumstances each may increase androgen production. Studies from our laboratory using in vivo experiments in the castrate dog and published in 1979 indicated that crude extracts of bovine pituitary contained a substance that either modified ACTH stimulation of adrenal androgen secretion, or stimulated secretion itself - Cortisol Androgen Stimulating Hormone. Parker et al in 1983 showed a 60,000 MW glycoprotein was extractable from human pituitaries, which stimulated DHA secretion by dispersed canine adrenal cells in vitro, but did not stimulate cortisol secretion. This material contained no ACTH by radioimmunoassay. In 1982 Brubaker et al reported a substance was also present in human fetal pituitaries, which stimulated DHA secretion, but did not effect cortisol. PMID:6100259

  11. [Immunoendocrine associations in adrenal glands].

    PubMed

    Sterzl, I; Hrdá, P

    2010-12-01

    Immune and endocrine systems are basic regulatory mechanisms of organism and, including the nervous system, maintain the organism's homeostasis. The main immune system representatives are mononuclear cells, T- and B-cells and their products, in the endocrine system the main representatives are cells of the glands with inner secretion and their products. One of the most important glands for maintaining homeostasis are adrenal glands. It has been proven that either cells of the immune system, either endocrine cells can, although in trace amounts, produce mutually mediators of both systems (hormones, cytokines). Disorders in one system can lead to pathological symptoms in the other system. Also here represent adrenals an important model.

  12. [Adrenal cystic masses. Our experience].

    PubMed

    Costantino, V; Petrin, P; Da Lio, C; Zaramella, D; Pedrazzoli, S

    1993-10-01

    Cystic masses of the adrenal gland are clinically and pathologically rare findings and few cases have been reported up to now in the medical literature. In the present work 5 new cases are reported: 3 adrenal pseudocysts, 1 lymphangioma, 1 cystic pheochromocytoma. In 3 cases there were clinical symptoms of retroperitoneal mass (lumbar pain, palpable mass, digestive symptoms); in 3 cases conventional radiology was helpful; ultrasonography was used for diagnosis in 1, CT scan in 2. In the pheochromocytoma case the real nature of the mass was determined through fluid hormone determination after fine needle puncture. All cases were treated by surgery.

  13. Two case reports of bilateral adrenal myelolipomas

    PubMed Central

    Yang, Yu; Ye, Lin-Yang; Yu, Bo; Guo, Jia-Xiang; Liu, Qian; Chen, Yun

    2015-01-01

    Primary adrenal myelolipoma is a rare, non-functioning adrenal benign tumor that is composed of mature adipose tissue and a variable amount of haemopoietic elements. Clinically, it is difficult to get diagnosed with adrenal myelolipoma because the patient usually doesn’t have obvious symptoms and signs in early stage. In the present study, two cases of primary bilateral adrenal myelolipomas are reported. Clinical presentation, imaging diagnostic features, histopathological changes and surgical treatments of the two patients are discussed. Preoperative diagnostic imaging examinations (B-mode ultrasonography, computed tomography and magnetic resonance imaging sans) assisted getting a prediction diagnosis of bilateral adrenal myelolipomas. A two-stage surgery was used to successfully excise bilateral adrenal myelolipomas in the two patients. Conventional open adrenalectomy was applied to remove the adrenal myelolipomas greater than 6 cm, and laparoscopic adrenalectomy was performed to excise the adrenal tumors smaller than 6 cm. Bilateral adrenal myelolipomas of the two patients were finally confirmed by postoperative histopathological examinations. Understanding clinical, imaging diagnostic and histopathological features of bilateral adrenal myelolipomas will facilitate timely diagnosis and treatment of this condition. Surgical removal of bilateral adrenal myelolipomas is safe, curative and beneficial. The two-stage surgery appears to be the best treatment option for the patients with bilateral adrenal myelolipomas because it achieves optimal treatment effectiveness with minimized sequelae. PMID:26380835

  14. Spontaneous Retroperitoneal Hemorrhage from Adrenal Artery Aneurysm

    SciTech Connect

    Gonzalez Valverde, F.M. Balsalobre, M.; Torregrosa, N.; Molto, M.; Gomez Ramos, M.J.; Vazquez Rojas, J.L.

    2007-04-15

    Spontaneous adrenal hemorrhage is a very rare but serious disorder of the adrenal gland that can require emergent treatment. We report on a 42-year-old man who underwent selective angiography for diagnosis and treatment of retroperitoneal hemorrhage from small adrenal artery aneurysm. This case gives further details about the value of transluminal artery embolization in the management of visceral aneurysm rupture.

  15. Per-oral endoscopic myotomy: Major advance in achalasia treatment and in endoscopic surgery

    PubMed Central

    Friedel, David; Modayil, Rani; Stavropoulos, Stavros N

    2014-01-01

    Per-oral endoscopic myotomy (POEM) represents a natural orifice endoscopic surgery (NOTES) approach to laparoscopy Heller myotomy (LHM). POEM is arguably the most successful clinical application of NOTES. The growth of POEM from a single center in 2008 to approximately 60 centers worldwide in 2014 with several thousand procedures having been performed attests to the success of POEM. Initial efficacy, safety and acid reflux data suggest at least equivalence of POEM to LHM, the previous gold standard for achalasia therapy. Adjunctive techniques used in the West include impedance planimetry for real-time intraprocedural luminal assessment and endoscopic suturing for challenging mucosal defect closures during POEM. The impact of POEM extends beyond the realm of esophageal motility disorders as it is rapidly popularizing endoscopic submucosal dissection in the West and spawning offshoots that use the submucosal tunnel technique for a host of new indications ranging from resection of tumors to pyloromyotomy for gastroparesis. PMID:25548473

  16. Per-oral endoscopic myotomy: major advance in achalasia treatment and in endoscopic surgery.

    PubMed

    Friedel, David; Modayil, Rani; Stavropoulos, Stavros N

    2014-12-21

    Per-oral endoscopic myotomy (POEM) represents a natural orifice endoscopic surgery (NOTES) approach to laparoscopy Heller myotomy (LHM). POEM is arguably the most successful clinical application of NOTES. The growth of POEM from a single center in 2008 to approximately 60 centers worldwide in 2014 with several thousand procedures having been performed attests to the success of POEM. Initial efficacy, safety and acid reflux data suggest at least equivalence of POEM to LHM, the previous gold standard for achalasia therapy. Adjunctive techniques used in the West include impedance planimetry for real-time intraprocedural luminal assessment and endoscopic suturing for challenging mucosal defect closures during POEM. The impact of POEM extends beyond the realm of esophageal motility disorders as it is rapidly popularizing endoscopic submucosal dissection in the West and spawning offshoots that use the submucosal tunnel technique for a host of new indications ranging from resection of tumors to pyloromyotomy for gastroparesis. PMID:25548473

  17. Esophageal per oral endoscopic myotomy (POEM) for achalasia: first case reported in Eastern Europe.

    PubMed

    Tantau, Marcel; Tantau, Alina

    2013-12-01

    Traditional endoscopic treatment of achalasia consists of endoscopic balloon dilatation with the inconvenience of the recurrence of symptoms and the necessity of repeated sessions. Surgical laparoscopic procedure has been advocated to be more efficient especially in young patients because it sections the lower oesophageal sphincter via a transabdominal approach. The long term most severe complication has been refractory reflux oesophagitis due mainly to the alteration of the oesogastric antireflux anatomy (Hiss angle). Surgical myotomy was clasically associated with an antireflux procedure. Peroral endoscopic myotomy (POEM) via a mucosal orifice is as efficient as surgical myotomy but the antireflux anatomy of gastroesophageal junction is not altered, so the reflux symptoms are reduced. Second, POEM is mini invasive in comparison with laparoscopic surgery. The paper presents our first and successful case of this endoscopic surgical procedure in a 41 year old patient. PMID:24369331

  18. Pregnancy delusion hinders the diagnosis of achalasia in a patient with life-threatening emaciation

    PubMed Central

    Lopes, Rafael Dias; Banzato, Claudio E. M.; Santos, Amilton

    2014-01-01

    Abnormal eating behaviour among psychiatric patients is associated with several psychiatric conditions, but may also be caused by a comorbid physical condition. Clinical assessment of a psychiatric patient is often challenging, which contributes to an increased rate of undiagnosed medical conditions and an increased mortality rate. We present the clinical case of a 46-year-old woman with a long-term delusion of triplet pregnancy, and recurrent vomiting. She experienced intense weight loss and eventually faced a life-threatening situation due to achalasia, which was incidentally discovered on a chest X-ray during her second psychiatric hospitalization, after several other tests, including upper digestive endoscopy, returned normal results. After a successful laparoscopic Heller's myotomy, her digestive symptoms greatly improved. This report illustrates the difficulty of establishing clinical-surgical diagnoses in psychotic patients, as some delusions seem to explain clinical complaints, masking and delaying the diagnosis of comorbid conditions. PMID:25988026

  19. Heller's cardiomyotomy compared with pneumatic dilatation for treatment of oesophageal achalasia.

    PubMed

    Mäkelä, J; Kiviniemi, H; Laitinen, S

    1991-01-01

    The records of 30 patients treated for oesophageal achalasia between 1976 and 1988 were analysed retrospectively. Early and late results were collected to compare the safety and efficacy of Heller's myotomy (n = 13) and pneumatic dilatation (n = 17). Unsatisfactory immediate postoperative results were found in 4 of 13 of the patients who had undergone myotomy (31%) and in 4 of the 17 patients treated by pneumatic dilatation (24%). More patients had improved swallowing during the first postoperative year after myotomy, but this difference ceased with time. The severity of the symptoms affected the results, and dilatations that had to be repeated more than twice were ineffective. We conclude that pneumatic dilatation is as safe as Heller's myotomy, and that although the early results are significantly better after myotomy, the late results are similar.

  20. Isosorbide dinitrate and nifedipine treatment of achalasia: a clinical, manometric and radionuclide evaluation

    SciTech Connect

    Gelfond, M.; Rozen, P.; Gilat, T.

    1982-11-01

    The effects of sublingual isosorbide dinitrate (5 mg) and nifedipine (20 mg) were compared in 15 patients with achalasia. The parameters examined included the manometric measurement of the lower esophageal sphincter pressure, the radionuclide assessment of esophageal emptying and the clinical response. The mean basal lower esophageal sphincter pressure fell significantly after both drugs (p less than 0.01), with a maximum fall of 63.5% 10 min after receiving isosorbide dinitrate, but by only 46.7% 30 min after nifedipine. The esophageal radionuclide test meal retention was significantly less (p less than 0.01) only after receiving isosorbide dinitrate. The drug improved initial esophageal emptying by its effect on the lower esophageal sphincter and by relieving the test meal hold-up noted to occur at the junction of the upper and midesophagus. Eight patients cleared their test meal within 10 min after isosorbide dinitrate administration while only two did so after nifedipine. Subjectively, 13 patients had their dysphagia relieved by isosorbide dinitrate and 8 by nifedipine. However, this relief was not confirmed in 4 patients by the radionuclide study and they, as well as the other 3 patients who did not respond to therapy, were referred to pneumatic dilatation. Side effects were more prominent after nitrates. Three of the patients are currently receiving nifedipine and 5 patients received isosorbide dinitrate therapy for 8-14 mo. The radionuclide test meal is currently the best way of objectively evaluating drug therapy in patients with achalasia. Isosorbide dinitrate is more effective than nifedipine in relieving their symptoms.

  1. Anesthetic considerations on adrenal gland surgery.

    PubMed

    Domi, Rudin; Sula, Hektor; Kaci, Myzafer; Paparisto, Sokol; Bodeci, Artan; Xhemali, Astrit

    2015-01-01

    Adrenal gland surgery needs a multidisciplinary team including endocrinologist, radiologist, anesthesiologist, and surgeon. The indications for adrenal gland surgery include hormonal secreting and non-hormonal secreting tumors. Adrenal hormonal secreting tumors present to the anesthesiologist unique challenges requiring good preoperative evaluation, perioperative hemodynamic control, corrections of all electrolytes and metabolic abnormalities, a detailed and careful anesthetic strategy, overall knowledge about the specific diseases, control and maintaining of postoperative adrenal function, and finally a good collaboration with other involved colleagues. This review will focus on the endocrine issues, as well as on the above-mentioned aspects of anesthetic management during hormone secreting adrenal gland tumor resection. PMID:25368694

  2. Adrenal lymphangioma removed by a retroperitoneoscopic procedure.

    PubMed

    Liu, Ben; Li, Yanyuan; Wang, Shuo

    2013-02-01

    We report a case of an adrenal lymphangioma removed by retroperitoneal laparoscopy. A 45-year-old female was referred to the urological ward for an adrenal mass that was incidentally detected by ultrasound examination one month earlier. An abdominal ultrasonography (US) scan revealed a 3.0 cm anechoic cystic mass, while a computed tomography (CT) scan revealed a 3.0×2.7 cm left adrenal cystic mass, which was suspected to be an adrenal cyst. The patient underwent retroperitoneoscopic removal of the tumor. Pathological evaluation revealed a cystic lymphangioma in the left adrenal gland.

  3. Anesthetic Considerations on Adrenal Gland Surgery

    PubMed Central

    Domi, Rudin; Sula, Hektor; Kaci, Myzafer; Paparisto, Sokol; Bodeci, Artan; Xhemali, Astrit

    2015-01-01

    Adrenal gland surgery needs a multidisciplinary team including endocrinologist, radiologist, anesthesiologist, and surgeon. The indications for adrenal gland surgery include hormonal secreting and non-hormonal secreting tumors. Adrenal hormonal secreting tumors present to the anesthesiologist unique challenges requiring good preoperative evaluation, perioperative hemodynamic control, corrections of all electrolytes and metabolic abnormalities, a detailed and careful anesthetic strategy, overall knowledge about the specific diseases, control and maintaining of postoperative adrenal function, and finally a good collaboration with other involved colleagues. This review will focus on the endocrine issues, as well as on the above-mentioned aspects of anesthetic management during hormone secreting adrenal gland tumor resection. PMID:25368694

  4. Adrenal gland and nonrenal retroperitoneum.

    PubMed

    Yeh, H C

    1987-01-01

    Ultrasound, as the initial cross-sectional imaging technique, confirmed the value of axial records. Although computerized tomography and possibly magnetic resonance offers better resolution, ultrasonography has the advantage of being less expensive, convenient, and highly portable. With these specific indications and reservations, ultrasonography of the adrenal and retroperitoneum has an accepted role in imaging.

  5. Double-Scope Peroral Endoscopic Myotomy (POEM) for Esophageal Achalasia: The First Trial of a New Double-Scope POEM

    PubMed Central

    Hong, Hee Jin; Song, Ga Won; Ko, Weon Jin; Kim, Won Hee; Hahm, Ki Baik; Hong, Sung Pyo; Cho, Joo Young

    2016-01-01

    With the accumulation of clinical trials demonstrating its efficacy and safety, peroral endoscopic myotomy (POEM) has emerged as a less invasive treatment option for esophageal achalasia compared with laparoscopic Heller myotomy. However, the difficulty in determining the exact extent of myotomy, a critical factor associated with the success and safety of the procedure, remains a limitation. Although the various endoscopic landmarks and ancillary techniques have been applied, none of these has been proven sufficient. As a solution for this limitation, the double-scope POEM technique with a second endoscope to assure the exact length of the submucosal tunnel has been applied since 2014. Before double-scope POEM was introduced, the second endoscope was applied only to confirm the accuracy of the procedure. In the present study, we performed double-scope POEM in the treatment of esophageal achalasia through a novel procedure of simultaneous application of the second endoscope to assist in the conventional POEM procedure. PMID:26975862

  6. Double-Scope Peroral Endoscopic Myotomy (POEM) for Esophageal Achalasia: The First Trial of a New Double-Scope POEM.

    PubMed

    Hong, Hee Jin; Song, Ga Won; Ko, Weon Jin; Kim, Won Hee; Hahm, Ki Baik; Hong, Sung Pyo; Cho, Joo Young

    2016-07-01

    With the accumulation of clinical trials demonstrating its efficacy and safety, peroral endoscopic myotomy (POEM) has emerged as a less invasive treatment option for esophageal achalasia compared with laparoscopic Heller myotomy. However, the difficulty in determining the exact extent of myotomy, a critical factor associated with the success and safety of the procedure, remains a limitation. Although the various endoscopic landmarks and ancillary techniques have been applied, none of these has been proven sufficient. As a solution for this limitation, the double-scope POEM technique with a second endoscope to assure the exact length of the submucosal tunnel has been applied since 2014. Before double-scope POEM was introduced, the second endoscope was applied only to confirm the accuracy of the procedure. In the present study, we performed double-scope POEM in the treatment of esophageal achalasia through a novel procedure of simultaneous application of the second endoscope to assist in the conventional POEM procedure.

  7. Adrenal adrenoceptors in heart failure

    PubMed Central

    de Lucia, Claudio; Femminella, Grazia D.; Gambino, Giuseppina; Pagano, Gennaro; Allocca, Elena; Rengo, Carlo; Silvestri, Candida; Leosco, Dario; Ferrara, Nicola; Rengo, Giuseppe

    2014-01-01

    Heart failure (HF) is a chronic clinical syndrome characterized by the reduction in left ventricular (LV) function and it represents one of the most important causes of morbidity and mortality worldwide. Despite considerable advances in pharmacological treatment, HF represents a severe clinical and social burden. Sympathetic outflow, characterized by increased circulating catecholamines (CA) biosynthesis and secretion, is peculiar in HF and sympatholytic treatments (as β-blockers) are presently being used for the treatment of this disease. Adrenal gland secretes Epinephrine (80%) and Norepinephrine (20%) in response to acetylcholine stimulation of nicotinic cholinergic receptors on the chromaffin cell membranes. This process is regulated by adrenergic receptors (ARs): α2ARs inhibit CA release through coupling to inhibitory Gi-proteins, and β ARs (mainly β2ARs) stimulate CA release through coupling to stimulatory Gs-proteins. All ARs are G-protein-coupled receptors (GPCRs) and GPCR kinases (GRKs) regulate their signaling and function. Adrenal GRK2-mediated α2AR desensitization and downregulation are increased in HF and seem to be a fundamental regulator of CA secretion from the adrenal gland. Consequently, restoration of adrenal α2AR signaling through the inhibition of GRK2 is a fascinating sympatholytic therapeutic strategy for chronic HF. This strategy could have several significant advantages over existing HF pharmacotherapies minimizing side-effects on extra-cardiac tissues and reducing the chronic activation of the renin–angiotensin–aldosterone and endothelin systems. The role of adrenal ARs in regulation of sympathetic hyperactivity opens interesting perspectives in understanding HF pathophysiology and in the identification of new therapeutic targets. PMID:25071591

  8. Intraoperative identification of adrenal-renal fusion

    PubMed Central

    Boll, Griffin; Rattan, Rishi; Yilmaz, Osman; Tarnoff, Michael E

    2015-01-01

    Adrenal - renal fusion is a rare entity defined as incomplete encapsulation of the adrenal gland and kidney with histologically adjacent functional tissue. This report describes the first published intraoperative identification of this anomaly during laparoscopic adrenalectomy. The patient was a 59-year-old man with chronic hypertension refractory to multiple antihypertensives found to be caused by a right-sided aldosterone-producing adrenal adenoma in the setting of bilateral adrenal hyperplasia. During laparoscopic adrenalectomy, the normal avascular plane between the kidney and adrenal gland was absent. Pathologic evaluation confirmed adrenal - renal fusion without adrenal heterotopia. Identified intraoperatively, this may be misdiagnosed as invasive malignancy, and thus awareness of this anomaly may help prevent unnecessarily morbid resection. PMID:26195881

  9. [Adrenal injury in blunt abdominal trauma].

    PubMed

    Abakumov, M M; Smoliar, A N; Barmina, T G; Boĭko, A V; Shalimova, I G

    2009-01-01

    10 patients with adrenal damage were observed during 2.5 years. It amounted 0.93% of all patients with closed abdominal injuries. The right adrenal gland was traumatized in all cases evidently due to it's compression between right lobe of liver and vertebral column. Adrenal damage is observed quite often in combination with injuries of right liver lobe, right kidney and retroperitoneal hematoma formation. 5 patients underwent laparotomy on account of intra-abdominal bleeding, but adrenal damage was never revealed. Ultrasound and tomographic semiotics of adrenal damage was worked out, which allowed ascertaining diagnosis in 80% on application of ultrasound study and in 100% at computer tomography. Injury of one adrenal gland was not accompanied by adrenal failure and did not require hormonal replacement therapy.

  10. Insufficiency fractures of the sacrum

    SciTech Connect

    Cooper, K.L.; Beabout, J.W.; Swee, R.G.

    1985-07-01

    Insufficiency stress fractures may occur in the sacrum after radiation therapy or secondary to postmenopausal or steroid-induced osteoporosis. These fractures are often either overlooked or confused both clinically and radiographically with metastatic disease. Findings on plain films and conventional tomograms are often subtle. Radionuclide bone scans show a characteristic distribution of increased uptake. Computed tomography is the definitive technique for demonstrating the fractures.

  11. Silent intravascular lymphoma initially manifesting as a unilateral adrenal incidentaloma.

    PubMed

    Takahashi, Yoshiko; Iida, Keiji; Hino, Yasuhisa; Ohara, Takeshi; Kurahashi, Toshifumi; Tashiro, Takashi; Chihara, Kazuo

    2012-01-01

    Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of malignant lymphoma. Although the involvement of adrenal glands in IVLBCL is often observed, primary adrenal IVLBCL is rare. Most reported cases of adrenal IVLBCL showed bilateral lesions resulting in rapidly progressive adrenal failure and poor prognosis. Here, we report a case of slowly progressive primary adrenal IVLBCL manifesting initially with unilateral adrenal incidentaloma. This case is a silent IVLBCL and shows that the enlargement of both adrenal glands can be followed.

  12. Idiopathic Bilateral Adrenal Hemorrhage in a 63-Year-Old Male: A Case Report and Review of the Literature

    PubMed Central

    Bodukam, Vijay Kumar; Thakur, Kshitij; Singh, Amandeep; Jenkins, Donald; Bahl, Jaya

    2015-01-01

    Adrenal hemorrhage is a largely uncommon condition typically caused by a number of factors including infection, MI, CHF, anticoagulants, trauma, surgery, and antiphospholipid syndrome. Yet, idiopathic bilateral hemorrhage is rare. The authors present a case of a 63-year-old male who presented with abdominal pain that was eventually diagnosed as bilateral adrenal hemorrhages due to an unknown origin. Abdominal CT revealed normal adrenal glands without enlargement, but an MRI displayed enlargement due to hemorrhage in both adrenals. There was no known cause; the patient had not suffered from an acute infection and was not on anticoagulants, and the patient's history did not reveal any of the other known causative factors. The case underscores the importance of keeping bilateral adrenal hemorrhages on the list of differentials even when a cause is not immediately clear. It also raises the question of whether CT is the most sensitive test in the diagnosis of adrenal hemorrhage and whether the diagnostic approach should place greater weight on MRI. The case highlights the need for prompt therapy with steroids once bilateral hemorrhage is suspected to avert the development or progression of adrenal insufficiency. PMID:25973281

  13. Major Complications of Pneumatic Dilation and Heller Myotomy for Achalasia: Single Center Experience and Systematic Review of the Literature

    PubMed Central

    Lynch, Kristle L; Pandolfino, John E; Howden, Colin W; Kahrilas, Peter J

    2013-01-01

    Background & Aims Pneumatic dilation (PD) and laparoscopic Heller myotomy (LHM) can be definitive therapies for achalasia; recent data suggest comparable efficacy. However, risk must also be considered. We reviewed the major complication rate of PD and LHM in a high volume center and reviewed the corresponding literature. Methods We reviewed 12 years of our institution’s achalasia treatment experience. During this interval a consistent technique of PD was used utilizing Rigiflex dilators. Medical records were reviewed for post-procedure complications. We administered a telephone survey and examined medical records to assess efficacy of treatment. We also performed a systematic review of the literature for comparable clinical data and examined 80 reports encompassing 12,494 LHM and PD procedures. Results At our center, 463 achalasia patients underwent 567 PD or LHM procedures. 78% of the PDs used a 30 mm Rigiflex dilator. 157/184 (85%) patients underwent 1 or 2 PD without any subsequent treatment. There were seven clinically significant perforations; one from PD and 6 from LHM. There were no resultant deaths from these perforations; two deaths occurred within 30 days of LHM from unrelated causes. Complications and deaths post-PD were significantly fewer than those post-LHM (p=.02). Conclusions Esophageal perforation from PD at our high-volume center was less common than often reported and lower than that associated with LHM. We conclude that, in the hands of experienced operators using conservative technique, PD has fewer major complications and deaths than LHM. PMID:23032978

  14. The Outcomes and Quality of Life of Patients with Achalasia after Peroral Endoscopic Myotomy in the Short-Term

    PubMed Central

    Liu, Xiao-Juan; Tan, Yu-Yong; Yang, Ren-Qi; Duan, Tian-Ying; Zhou, Jun-Feng; Zhou, Xiao-Ling

    2015-01-01

    Purpose: To assess the short-term efficacy and quality of life (QOL) of patients with achalasia after peroral endoscopic myotomy (POEM). Methods: Thirty-five achalasia patients underwent POEM from May 2013 to December 2013. The data on clinical evaluation and QOL before therapy, at 1 month and 6 months postoperation were collected and analyzed. Results: All the thirty-five patients underwent POEM successfully. By comparing the data of the preoperative with that of 1 month and 6 months after POEM respectively, we found that: mean Eckardt score decreased (6.83 vs 0.51, 6.83 vs 0.46, all P <0.05), esophagus diameter reduced (47.97 mm vs 32.00 mm, 47.97 mm vs 28.50 mm, all P <0.05), and esophageal manometry declined (29.5 mmHg vs 11.5 mmHg, 29.5 mmHg vs 10.3 mmHg, all P <0.05). Complications occurred in 14.3% (5/35) of the cases, and no recurrence was observed. At each time point, postoperative QOL scores were higher than those of preoperative (P <0.05). Conclusions: POEM is safe and effective for treating achalasia in the short-term, it can relieve clinic symptoms as well as improve patients’ QOL. PMID:26156194

  15. Long-term outcome of laparoscopic Heller-Dor surgery for esophageal achalasia: possible detrimental role of previous endoscopic treatment.

    PubMed

    Portale, Giuseppe; Costantini, Mario; Rizzetto, Christian; Guirroli, Emanuela; Ceolin, Martina; Salvador, Renato; Ancona, Ermanno; Zaninotto, Giovanni

    2005-12-01

    Laparoscopic Heller myotomy has recently emerged as the treatment of choice for esophageal achalasia. Previous unsuccessful treatments (pneumatic dilations or botulinum toxin [BT] injections) can make surgery more difficult, causing a higher risk of mucosal perforation and jeopardizing the outcome. The study goal was to evaluate the effects of prior endoscopic treatments on laparoscopic Heller myotomy. Between January 1992 and February 2005, 248 patients (130 males and 118 females; median age, 43 years) underwent a laparoscopic Heller-Dor operation for achalasia: 203 underwent primary surgery (group A), 19 had been previously treated with pneumatic dilations (group B), and 26 had BT injections (alone [22] or with dilations [4] (group C)). Median duration of the operation and rate of intraoperative mucosal lesions were not different in the three groups. Median follow-up was 41 months. The 5-year actuarial of control of dysphagia was similar in groups A (86%) and B (94%), whereas only 75% of group C patients were symptom free at 5 years (P = 0.02). On logistic regression analysis, prior treatment with two BT injections or BT combined with dilation was associated with poor outcome of surgery. Further, dilations for surgical failure patients were effective in 80% of group A but in only 33% of group B or C patients. Heller-Dor surgery is safe and effective as a primary or a second-line treatment (after pneumatic dilations or BT injections) for achalasia. However, long-term results seem less satisfactory in patients previously treated with BT.

  16. Primary bilateral adrenal intravascular large B-cell lymphoma associated with adrenal failure.

    PubMed

    Fukushima, Ayumi; Okada, Yosuke; Tanikawa, Takahisa; Onaka, Takashi; Tanaka, Aya; Higashi, Takehiro; Tsukada, Junichi; Tanaka, Yoshiya

    2003-07-01

    We report a rare case of bilateral primary adrenal non-Hodgkin's lymphoma with adrenal failure. A 66-year-old woman developed symptoms of adrenal failure. The cause of adrenal failure was suspected to be malignant lymphoma based on the high levels of serum soluble interleukin-2 receptor and LDH. Bilateral adrenalectomy was performed and pathological examination showed intravascular large B-cell lymphoma (IVL). Although complete remission was achieved, recurrence occurred three months later with brain metastases. IVL should be suspected in patients with bilateral adrenal tumors who present with rapidly progressive adrenal failure.

  17. Efficacy of single serum cortisol reading obtained between 9 AM and 10 AM as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone.

    PubMed

    Goto, Masahiro; Shibata, Nao; Hasegawa, Yukihiro

    2016-07-01

    To find a simple method to screen for iatrogenic childhood adrenal insufficiency, we retrospectively examined the results of CRH stimulation tests performed 212 times on 111 subjects (68 males; age at commencement of initial treatment ranged 0.0-19.8 yr; median age, 5.8 yr). Before the commencement of this study, 97 subjects had been treated with glucocorticoids and 14 subjects with West syndrome had been treated with synthetic adrenocorticotropic hormone. Duration of the primary treatment ranged from 15 to 2150 days. CRH stimulation tests were conducted between 09:00 AM and 10:00 AM and peak cortisol values less than 15 µg/dL were considered indicative of adrenal insufficiency. The receiver operating characteristic curve showed that the optimal basal serum cortisol cut-off values when screening for adrenal suppression ranged from 5.35 to 5.80 µg/dL depending on the primary disease. All subjects having a serum cortisol value of less than 2.3 µg/dL had insufficient adrenal function while all subjects having greater than 11 µg/dL had intact adrenal function. We concluded that single serum cortisol values obtained between 09:00 AM and 10:00 AM had the potential to serve as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone. PMID:27507908

  18. Efficacy of single serum cortisol reading obtained between 9 AM and 10 AM as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone

    PubMed Central

    Goto, Masahiro; Shibata, Nao; Hasegawa, Yukihiro

    2016-01-01

    Abstract. To find a simple method to screen for iatrogenic childhood adrenal insufficiency, we retrospectively examined the results of CRH stimulation tests performed 212 times on 111 subjects (68 males; age at commencement of initial treatment ranged 0.0–19.8 yr; median age, 5.8 yr). Before the commencement of this study, 97 subjects had been treated with glucocorticoids and 14 subjects with West syndrome had been treated with synthetic adrenocorticotropic hormone. Duration of the primary treatment ranged from 15 to 2150 days. CRH stimulation tests were conducted between 09:00 AM and 10:00 AM and peak cortisol values less than 15 µg/dL were considered indicative of adrenal insufficiency. The receiver operating characteristic curve showed that the optimal basal serum cortisol cut-off values when screening for adrenal suppression ranged from 5.35 to 5.80 µg/dL depending on the primary disease. All subjects having a serum cortisol value of less than 2.3 µg/dL had insufficient adrenal function while all subjects having greater than 11 µg/dL had intact adrenal function. We concluded that single serum cortisol values obtained between 09:00 AM and 10:00 AM had the potential to serve as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone. PMID:27507908

  19. Relative adrenal insufficiency as a predictor of disease severity and mortality in severe septic shock

    PubMed Central

    Dalegrave, Daniele; Silva, Rafael Lockshin; Becker, Maicon; Gehrke, Lísia Varella; Friedman, Gilberto

    2012-01-01

    Objective To evaluate if cortisol responses to 250 µg of intravenously administered adrenocorticotropic hormone are related to disease severity and, hence, mortality. Methods This is a retrospective study in a medical-surgical intensive care unit of a university hospital. We studied 69 consecutive patients with septic shock over a 1-yr period; these patients underwent a short 250-µg adrenocorticotropic hormone test because they exhibited >6 hours of progressive hemodynamic instability requiring repeated fluid challenges and vasopressor treatment to maintain blood pressure. The test was performed by intravenously injecting 250 µg of synthetic adrenocorticotropic hormone and measuring cortisol immediately before injection, 30 minutes post-injection and 60 minutes post-injection. Results The mean APACHE II score was 22±7. The intensive care unit mortality rate at day 28 was 55%. Median baseline cortisol levels (19 [11-27] µg/dL versus 24 [18-34] µg/dL, p=0.047) and median baseline cortisol/albumin ratios (7.6 [4.6-12.3] versus 13.9 [8.8-18.5]; p=0.01) were lower in survivors than in non-survivors. Responders and non-responders had similar baseline clinical data and outcomes. The variables that were significantly correlated with outcome based on the area under the ROC curves (AUC) were APACHE II (AUC=0.67 [0.535 to 0.781]), baseline cortisol (µg/dl) (AUC=0.662 [0.536 to 0.773], peak cortisol (µg/dl) (AUC=0.642 [0.515 to 0.755]) and baseline cortisol/albumin (AUC=0.75 [0.621 to 0.849]). Conclusions Increased basal cortisol is associated with mortality and disease severity. Cortisol responses upon adrenocorticotropic hormone stimulation were not related to outcome. The cortisol/albumin ratio does not predict unfavorable outcomes better than total cortisol levels or help to improve the accuracy of the adrenocorticotropic hormone test. PMID:23917934

  20. Adrenal imaging (Part 1): Imaging techniques and primary cortical lesions

    PubMed Central

    Panda, Ananya; Das, Chandan J.; Dhamija, Ekta; Kumar, Rakesh; Gupta, A. K.

    2015-01-01

    Adrenal glands can be affected by a variety of lesions. Adrenal lesions can either be primary, of adrenal origin, or secondary to other pathologies. Primary adrenal lesions can further be either of cortical or medullary origin. Functioning adrenal lesions can also give clues to the histologic diagnosis and direct workup. Over the years, various imaging techniques have been developed that have increased diagnostic accuracy and helped in better characterization of adrenal lesions non-invasively. In the first part of the two part series, we review adrenal imaging techniques and adrenal cortical tumors such as adenomas, adrenocortical tumors, adrenal hyperplasia and oncocytomas. PMID:25593820

  1. Convergence insufficiency and vision therapy.

    PubMed

    McGregor, Mary Lou

    2014-06-01

    There is no standard meaning of the term "vision therapy", and for this reason it is often a controversial topic between some members of the ophthalmic and optometric community. Most pediatric ophthalmologists avoid using the term because it is nonspecific. Convergence Insufficiency (CI) is a binocular visual problem that causes problems and symptoms with near fixation. There is consensus among eye care professionals that convergence therapy is effective in treating CI. Convergence therapy is not effective in treating learning disabilities, but can sometimes relieve symptoms that might be a barrier to reading.

  2. Robotic renal and adrenal surgery.

    PubMed

    Sung, Gyung Tak; Gill, Inderbir S

    2003-12-01

    Technology today is evolving at a dramatic rate. Quantum development has occurred in the area of robotic enhancement technology (RET) in the last decade. Incorporation of RET with advanced telecommunication technologies is a recent integration in medicine, with growth potential and application in the delivery of modern health care. There remain, however, many areas which need to be further improved and evaluated before clinical applications of the robot become accepted in adrenal and renal minimally invasive surgery. PMID:14712880

  3. Pattern of esophageal eosinophilic infiltration in patients with achalasia and response to Heller myotomy and Dor fundoplication.

    PubMed

    Cools-Lartigue, J; Chang, S-Y; Mckendy, K; Mayrand, S; Marcus, V; Fried, G M; Ferri, L E

    2013-01-01

    Eosinophilic esophagitis (EoE) is now recognized as a common cause of dysphagia. Eosinophilic infiltration of the esophagus has also been associated with other conditions, such as gastroesophageal reflux disease (GERD); however, the incidence, pattern, and clinical significance of eosinophilic infiltration in achalasia are poorly documented. We sought to characterize this histological finding in patients undergoing Heller myotomy (HM) for achalasia. Ninety-six patients undergoing laparoscopic HM for primary achalasia between 1999 and 2008 were identified from a prospective database. Serial mid and distal per-endoscopic esophageal biopsies taken from patients before and after surgery were assessed for the presence of elevated intraepithelial eosinophils (EIEs). Slides from patients with reports suggestive of EIE were reviewed independently by two pathologists, and the highest eosinophil count/high-power field (eos/hpf) was recorded. Dysphagia scores (0 = none to 5 = severe dysphagia), GERD health-related quality of life scores (0 = best to 45 = worst), and 24-hour pH results were compared before and 3 months after surgery. We related the highest eos to the symptoms and response to HM. Data are presented as median (range). Paired t-test and Wilcoxon signed-rank test determined significance, *P < 0.05. Of 96 patients with achalasia, 50 had undergone pre-HM biopsies revealing EIE in 17/50 (34%), with a median of 3 eos/hpf (1-21). Two patients were found to have superimposed esophageal candidiasis. One patient met the pathologic criteria for EoE. Twenty-five of 50 (50%) postoperative biopsies demonstrated a median of 5 eos/hpf (1-62) for a total of 28/50 patients (56%) with EIE in either the preoperative or postoperative period. Four patients (8%) met the pathologic criteria for EoE, and two demonstrated persistent esophageal candidiasis. A decrease in eosinophils was found in 6/28 patients (21%) from 3/hpf (1-21) to 0.5/hpf (0-4). Increase in eosinophils was found in

  4. Laparoscopic Resection of an Adrenal Schwannoma

    PubMed Central

    Konstantinos, Toutouzas G.; Panagiotis, Kekis B.; Nikolaos, Michalopoulos V.; Ioannis, Flessas; Andreas, Manouras; Geogrios, Zografos

    2012-01-01

    Background and Objectives: Schwannomas are tumors originating from Schwann cells of the peripheral nerve sheath (neurilemma) of the neuroectoderm. Rarely, schwannomas can arise from the retroperitoneum and adrenal medulla. We describe a case of a 71-y-old woman who presented with an incidentally discovered adrenal tumor. Methods: Ultrasound and computed tomography scans revealed a lesion with solid and cystic areas originating from the left adrenal gland. The patient underwent complete laparoscopic resection of the tumor and the left adrenal gland. Results: Histopathological examination and immunohistochemical staining of the excised specimen revealed a benign schwannoma measuring 5.5×5×3.7 cm. To our knowledge, few other cases of laparoscopic resection of adrenal schwannomas have been reported. Conclusion: Because preoperative diagnosis of adrenal tumors is inconclusive, complete laparoscopic excision allows for definitive diagnosis with histological evaluation and represents the treatment of choice. PMID:23484583

  5. Adrenal cyst--a case report.

    PubMed

    Huang, S P; Chen, C C; Li, C C; Wu, W J; Chou, Y H; Huang, C H

    2001-03-01

    Adrenal cysts are rare and mostly silent clinically. Herein we report a case of adrenal cyst. A 55-year-old female was incidentally found to have a left suprarenal cystic lesion with a calcified wall by abdominal sonography during a work-up for her epigastralgia and left flank pain. Then, computed tomography (CT) revealed a left adrenal cystic mass with wall calcification, magnetic resonance imaging (MRI) showed left retroperitoneal cystic mass with fluid content, and angiography demonstrated an avascular lesion. Surgical exploration was performed via a flank incision and a calcified cystic adrenal mass was excised. The pathologic diagnosis was adrenal pseudocyst with calcified wall. We discuss the diagnosis and management of adrenal cyst and briefly review the literature.

  6. Operative approaches to the adrenal gland.

    PubMed

    Guz, B V; Straffon, R A; Novick, A C

    1989-08-01

    Various adrenal disorders necessitate surgical intervention, and familiarity with adrenal pathophysiology and surgical anatomy is crucial to the success of these procedures. A number of operative approaches--anterior, posterior, flank, and thoracoabdominal--are available; the choice must be made on the basis of the patient's adrenal pathology, body habitus, and surgical history as well as the surgeon's experience and familiarity with the different options. PMID:2665278

  7. Adrenal scan in 17-alpha-hydroxylase deficiency: false indication of adrenal adenoma

    SciTech Connect

    Shore, R.M.; Lieberman, L.M.; Newman, T.J.; Friedman, A.; Bargman, G.J.

    1981-07-01

    A patient who was thought to have testicular feminization syndrome and primary aldosteronism had an adrenal scan that suggested an adrenal adenoma. After later diagnosis of 17-alpha-hydroxylase deficiency, she was treated with glucocorticoids rather than surgery. Her clinical course and a repeat adrenal scan confirmed she did not have a tumor.

  8. Imaging of adrenal and renal hemorrhage.

    PubMed

    Hammond, Nancy A; Lostumbo, Antonella; Adam, Sharon Z; Remer, Erick M; Nikolaidis, Paul; Yaghmai, Vahid; Berggruen, Senta M; Miller, Frank H

    2015-10-01

    Hemorrhage of the kidneys and adrenal glands has many etiologies. In the adrenal glands, trauma, anticoagulation, stress, sepsis, surgery, and neoplasms are common causes of hemorrhage. In the kidneys, reasons for hemorrhage include trauma, bleeding diathesis, vascular diseases, infection, infarction, hemorrhagic cyst rupture, the Antopol-Goldman lesion, and neoplasms. Angiomyolipoma and renal cell carcinoma are the neoplasms most commonly associated with hemorrhage in the kidneys and adrenal cortical carcinoma, metastases, and pheochromocytoma are associated with hemorrhage in the adrenal glands. Understanding the computed tomography and magnetic resonance imaging features, and causes of hemorrhage in the kidneys and adrenal glands is critical. It is also important to keep in mind that mimickers of hemorrhage exist, including lymphoma in both the kidneys and adrenal glands, and melanoma metastases in the adrenal glands. Appropriate imaging follow-up of renal and adrenal hemorrhage should occur to exclude an underlying malignancy as the cause. If there is suspicion for malignancy that cannot be definitively diagnosed on imaging, surgery or biopsy may be warranted. Angiography may be indicated when there is a suspected underlying vascular disease. Unnecessary intervention, such as nephrectomy, may be avoided in patients with benign causes or no underlying disease. Appropriate management is dependent on accurate diagnosis of the cause of renal or adrenal hemorrhage and it is incumbent upon the radiologist to determine the etiology.

  9. Esophagogastric junction distensibility measurements during Heller myotomy and POEM for achalasia predict postoperative symptomatic outcomes

    PubMed Central

    Teitelbaum, Ezra N.; Soper, Nathaniel J.; Pandolfino, John E.; Kahrilas, Peter J.; Hirano, Ikuo; Boris, Lubomyr; Nicodème, Frédéric; Lin, Zhiyue; Hungness, Eric S.

    2015-01-01

    Background The functional lumen imaging probe (FLIP) is a novel diagnostic tool that can be used to measure esophagogastric junction (EGJ) distensibility. In this study we performed intraoperative FLIP measurements during laparoscopic Heller myotomy (LHM) and peroral esophageal myotomy (POEM) for treatment of achalasia and evaluated the relationship between EGJ distensibility and postoperative symptoms. Methods Distensibility index (DI) (defined as the minimum cross-sectional area at the EGJ divided by distensive pressure) was measured with FLIP at two time points during LHM and POEM: 1) at baseline after induction of anesthesia, and 2) after operation completion. Results Measurements were performed in 20 patients undergoing LHM and 36 undergoing POEM. Both operations resulted in an increase in DI, although this increase was larger with POEM (7±3.1 vs. 5.1±3.4mm2/mmHg, p<.05). The two patients (both LHM) with the smallest increases in DI (1 and 1.6mm2/mmHg) both had persistent symptoms postoperatively and, overall, LHM patients with larger increases in DI had lower postoperative Eckardt scores. In the POEM group, there was no correlation between change in DI and symptoms; however, all POEM patients experienced an increase in DI of >3mm2/mmHg. When all patients were divided into thirds based on final DI, none in the lowest DI group (<6mm2/mmHg) had symptoms suggestive of reflux (i.e., GerdQ score >7), as compared with 20% in the middle third (6–9mm2/mmHg) and 36% in the highest third (>9mm2/mmHg). Patients within an “ideal” final DI range (4.5–8.5 mm2/mmHg) had optimal symptomatic outcomes (i.e. Eckardt≤1 and GerdQ≤7) in 88% of cases, compared with 47% in those with a final DI above or below that range (p<.05). Conclusions Intraoperative EGJ distensibility measurements with FLIP were predictive of postoperative symptomatic outcomes. These results provide initial evidence that FLIP has the potential to act as a useful calibration tool during operations

  10. A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism.

    PubMed

    Wang, Chun Lin; Fen, Zhu Wei; Liang, Li

    2014-03-01

    We report the case of a 12-year-old boy with a de novo mutation in the DAX1 gene (for dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X chromosome, gene 1; also called NROB1). He was born at term, Addison's disease was diagnosed at 8 years with a salt-wasting syndrome, and then hydrocortisone substitution was taken; the child continued to develop normally. A reoccurrence of salt-wasting syndrome usually happened after an episode of an abrupt withdrawal of hydrocortisone substitution. Because of adrenal insufficiency without hypogonadotropic hypogonadism, he came to the clinic at 12 years of age and hypoplasia of adrenal glands was found by MRI scans. We proposed the diagnosis of congenital adrenal hypoplasia in this patient and identified a hemizygous mutation (c.999_1000insCTCA, p.Leu335ThrfsX389) in exon 1 of the DAX1 gene. To our knowledge, it is a de novo mutation that leads to a frame-shift, a premature stop codon. In conclusion, it is very important to identify mutation in the DAX1 gene for a boy with adrenal insufficiency of unknown etiology.

  11. Clinical aspects of cervical insufficiency.

    PubMed

    Lotgering, Frederik K

    2007-06-01

    Fetal loss is a painful experience. A history of second or early third trimester fetal loss, after painless dilatation of the cervix, prolapse or rupture of the membranes, and expulsion of a live fetus despite minimal uterine activity, is characteristic for cervical insufficiency. In such cases the risk of recurrence is high, and a policy of prophylactic cerclage may be safer than one of serial cervical length measurements followed by cerclage, tocolysis and bed rest in case of cervical shortening or dilatation. In low risk cases, however, prophylactic cerclage is not useful. There is a need for more basic knowledge of cervical ripening, objective assessment of cervical visco-elastic properties, and randomized controlled trials of technical aspects of cervical cerclage (e.g. suturing technique).

  12. Prevalence of gallstones in 1,229 patients submitted to surgical laparoscopic treatment of GERD and esophageal achalasia: associated cholecystectomy was a safe procedure

    PubMed Central

    SALLUM, Rubens Antonio Aissar; PADRÃO, Eduardo Messias Hirano; SZACHNOWICZ, Sergio; SEGURO, Francisco C. B. C.; BIANCHI, Edno Tales; CECCONELLO, Ivan

    2015-01-01

    Background Association between esophageal achalasia/ gastroesophageal reflux disease (GERD) and cholelithiasis is not clear. Epidemiological data are controversial due to different methodologies applied, the regional differences and the number of patients involved. Results of concomitant cholecistectomy associated to surgical treatment of both diseases regarding safety is poorly understood. Aim To analyze the prevalence of cholelithiasis in patients with esophageal achalasia and gastroesophageal reflux submitted to cardiomyotomy or fundoplication. Also, to evaluate the safety of concomitant cholecistectomy. Methods Retrospective analysis of 1410 patients operated from 2000 to 2013. They were divided into two groups: patients with GERD submitted to laparocopic hiatoplasty plus Nissen fundoplication and patients with esophageal achalasia to laparoscopic cardiomyotomy plus partial fundoplication. It was collected epidemiological data, specific diagnosis and subgroups, the presence or absence of gallstones, surgical procedure, operative and clinical complications and mortality. All groups/subgroups were compared. Results From 1,229 patients with GERD or esophageal achalasia, submitted to laparoscopic cardiomyotomy or fundoplication, 138 (11.43%) had cholelitiasis, occurring more in females (2.38:1) with mean age of 50,27 years old. In 604 patients with GERD, 79 (13,08%) had cholelitiasis. Lower prevalence occurred in Barrett's esophagus patients 7/105 (6.67%) (p=0.037). In 625 with esophageal achalasia, 59 (9.44%) had cholelitiasis, with no difference between chagasic and idiopathic forms (p=0.677). Complications of patients with or without cholecystectomy were similar in fundoplication and cardiomyotomy (p=0.78 and p=1.00).There was no mortality or complications related to cholecystectomy in this series. Conclusions Prevalence of cholelithiasis was higher in patients submitted to fundoplication (GERD). Patients with chagasic or idiopatic forms of achalasia had the

  13. [Oesophageal diseases: gastroesophageal reflux disease, Barrett's disease, achalasia and eosinophilic oesophagitis].

    PubMed

    Calvet, Xavier

    2015-09-01

    The most important novel findings presented on oesophageal disease in DDW 2015 were the following: 1) GERD: a) hypervigilance seems to be a key pathogenic factor in reflux symptoms refractory to PPI; b) post-reflux swallowing-induced peristaltic waves could be an excellent diagnostic criterion for GERD; c) laryngeal pH-metry is not useful in the diagnosis of extra-oesophageal symptoms; d) the recommendation of weight loss adequately recorded in the clinical reports of patients with GERD and obesity or overweight is an excellent quality indicator and is associated with better outcomes. 2) Barrett's oesophagus: a) persistent low-grade dysplasia in more than one endoscopy and a diagnosis of "indefinite for dysplasia" are associated with a high risk of neoplastic progression; b) narrow-band imaging allows areas of dysplasia on Barrett's oesophagus to be identified with high sensitivity and specificity; c) initial endoscopy fails to identify a high percentage of advanced neoplasms in Barrett's oesophagus. Early re-endoscopy should be considered; d) endoscopists specialized in Barret's oesophagus obtain a much higher yield in the diagnosis of advanced lesions. Patients at high risk-men, older patients, smokers and those with long-segment Barrett's oesophagus-could benefit from follow-up in a referral center. 3) Achalasia: POEM seems safe and effective, independently from patient characteristics (age, comorbidity) and the technical variations used. 4) Eosinophilic esophagitis: topical budesonide and exclusion diets are reasonably effective in PPI non-responders. PMID:26520196

  14. USP10 Expression in Normal Adrenal Gland and Various Adrenal Tumors.

    PubMed

    Zeng, Zhi; Zhou, Ziying; Zhan, Na; Yuan, Jingping; Ye, Baixin; Gu, Lijuan; Wang, Jun; Jian, Zhihong; Xiong, Xiaoxing

    2015-12-01

    Ubiquitin-specific protease 10 (USP10), a novel deubiquitinating enzyme, is associated with androgen receptor transcriptional activity and pathological processes of tumor. However, information between USP10 and the adrenal gland is limited. In particular, the role of USP10 in adrenal tumors has not been elucidated yet. This study aims to investigate the expression of USP10 in the human normal adrenal gland and various adrenal tumors. Tissue samples were obtained from 30 adrenocortical adenomas, nine adrenocortical adenocarcinomas, and 20 pheochromocytomas following laparoscopic surgery. Twenty normal adrenal glands were obtained from kidney surgical resection conducted due to renal cell carcinomas. USP10 expression was investigated on protein levels using immunohistochemistry and on mRNA levels using bioinformatics analysis in the Gene Expression Omnibus (GEO) Datasets. In the 20 cases of normal adrenal glands analyzed, USP10 protein was constantly expressed in situ in the cortex of the adrenal glands, but in the medulla of the gland, only the sustentacular cells were detected positive. In adrenal tumors, detectable levels of USP10 protein were found in 100 % (30/30) adrenocortical adenomas, 88.89 % (8/9) adrenocortical carcinomas, and 10 % (2/20) pheochromocytomas. Bioinformatics analysis did not show a significant difference in USP10 messenger RNA (mRNA) expression between adrenal tumors and normal adrenal gland tissues. A positive USP10 immunoreaction can be useful in distinguishing adrenal cortical tumors from pheochromocytoma.

  15. Images of pheochromocytoma in adrenal glands

    PubMed Central

    McCarthy, Colin J.; Blake, Michael A.

    2015-01-01

    Pheochromocytomas are relatively rare tumors of the adrenal medulla. A wide spectrum of imaging findings has been described. The aim of this article is to describe the multimodality imaging features of pheochromocytomas including diagnostic pearls that can help differentiate them from other adrenal lesions and pitfalls to avoid. PMID:26310999

  16. Unilateral adrenal hemorrhagic infarction in essential thrombocythemia.

    PubMed

    Burnet, G; Lambert, M; Annet, L; Lefebvre, C

    2015-12-01

    Adrenal hemorrhage is a rare disease associated with various conditions. We report a case of a 68-year-old woman with abdominal and back pain. The diagnostic work-up showed a left adrenal gland infarction associated with essential thrombocythemia. Treatment consisted in painkillers and treating the underlying condition in order to prevent further thrombotic events.

  17. Images of pheochromocytoma in adrenal glands.

    PubMed

    McDermott, Shaunagh; McCarthy, Colin J; Blake, Michael A

    2015-08-01

    Pheochromocytomas are relatively rare tumors of the adrenal medulla. A wide spectrum of imaging findings has been described. The aim of this article is to describe the multimodality imaging features of pheochromocytomas including diagnostic pearls that can help differentiate them from other adrenal lesions and pitfalls to avoid.

  18. Computed tomographic findings in bilateral adrenal tuberculosis

    SciTech Connect

    Wilms, G.E.; Baert, A.L.; Kint, E.J.; Pringot, J.H.; Goddeeris, P.G.

    1983-03-01

    The computed tomographic (CT) features of bilateral adrenal tuberculosis are reported in two cases that demonstrate two typical different clinical and morphological manifestations of the disease. The incidence and CT appearance of adrenal tuberculosis are discussed, with emphasis on differential diagnosis.

  19. [Two cystic retroperitoneal lesions mimicking adrenal cysts].

    PubMed

    Grabellus, F; Dereskewitz, C; Schmitz, K J; Kaiser, G M; Kühl, H; Kersting, C; Frilling, A; Metz, K A; Baba, H A

    2005-05-01

    Adrenal cysts are uncommon lesions and most of them are found incidentally during abdominal imaging. We report on two benign extraadrenal lesions mimicking adrenal tumors in abdominal imaging. The histopathological investigation of the lesions revealed a foregut duplication cyst of the lesser gastric curvature and an epithelial inclusion cyst (epidermoid cyst) in an intrapancreatic accessory spleen respectively.

  20. Per-Oral Endoscopic Myotomy Versus Laparoscopic Heller Myotomy for Achalasia: A Meta-Analysis of Nonrandomized Comparative Studies.

    PubMed

    Zhang, Yuan; Wang, Hongjuan; Chen, Xingdong; Liu, Lan; Wang, Hongbo; Liu, Bin; Guo, Jianqiang; Jia, Hongying

    2016-02-01

    We aimed to assess the short-term outcomes of per-oral endoscopic myotomy (POEM) compared with laparoscopic Heller myotomy (LHM) for achalasia through a meta-analysis of nonrandomized comparative studies.We searched PubMed, Embase, Medline, Cochrane Library, and Google Scholar for studies that compared POEM and LHM for achalasia and were published between January 1, 2008 and December 31, 2014. The Methodological Index for Nonrandomized Studies (MINORS) was used to evaluate the quality of the studies. Random- and fixed-effects meta-analytical models were used, and between-study heterogeneity was assessed.Four nonrandomized comparative studies that included 317 patients (125 in the POEM group and 192 in the LHM group) met our research criteria and were assessed. There were no differences between the POEM and LHM groups in terms of sex, preoperative Eckhart score, length of myotomy, operation time, length of hospital stay, and complications. The patients in the POEM group were older than those in the LHM group (MD =2.81, 95% CI 0.27-5.35; P = 0.03) with high between-study homogeneity (χ = 1.96, df = 2, I = 0%; P = 0.38). The patients in the POEM group had a lower Eckardt score after surgery compared with those in the LHM group (MD = -0.30, 95% CI -0.42 to -0.18; P < 0.001) with high between-study homogeneity (χ = 0.00, df = 1, I = 0%; P = 1.00).The efficacy and safety of POEM appear to be comparable to those of LHM. Multicenter and randomized trials with larger sample size are needed to further compare the efficacy and safety of POEM and LHM for the treatment of achalasia. PMID:26871816

  1. Velopharyngeal insufficiency: diagnosis and management

    PubMed Central

    Shprintzen, Robert J.; Marrinan, Eileen

    2009-01-01

    Purpose of Review Journal articles relevant to the diagnosis and treatment of velopharyngeal insufficiency (VPI) were reviewed. All articles ascertained by PubMed search were included. Recent Findings Articles reported on the application of magnetic resonance scanning, reliability tests of the International Working Group diagnostic protocol, the use of nasometry, and techniques designed to assess the function of the velopharyngeal mechanism. Treatment papers focused on outcomes in small samples of cases and complication rates from pharyngeal flap. One paper discussed ineffective speech therapy procedures. Summary There were relatively few papers this past year. Those that were published were hindered by small and heterogeneous sample sizes, and occasionally by inappropriate methods for assessing outcomes. None of the findings will have a major impact on the current state-of-the-art for diagnosis of VPI. The speech therapy paper has a very important message that should be taken to heart by all clinicians involved in the management of children with clefts and craniofacial disorders. PMID:19448542

  2. Update on Primary Ovarian Insufficiency

    PubMed Central

    Hewlett, Meghan; Mahalingaiah, Shruthi

    2016-01-01

    Purpose of Review Despite an incidence of one percent among women under the age of forty, primary ovarian insufficiency (POI) is still poorly understood. As the variable etiology and presentation of POI complicate its management, a standard regimen for treatment remains to be established. However, emerging research has provided new insight on current mainstays of treatment as well as novel management approaches and therapeutic interventions. Recent findings Recent clinical trials in women with POI indicate that the widely-used regimen of transdermal estradiol and medroxyprogesterone acetate restores bone mineral density (BMD) to a level equal to women with normal ovarian function. Further research verifies that compounded bioidentical hormones and androgen supplementation are inadequate in treating POI and lowering risk for long-term sequelae. Additionally, assessing changes in bone turnover markers may be useful for monitoring BMD. Alternative therapies such as acupuncture, DHEA, and buproprion may be effective in treating the effects of estrogen deficiency at some level, but require further investigation. Summary Recent updates show promise in improving management methods and reducing risk of long-term sequelae. Additional research that expands upon the most current literature is critical in order to achieve an evidence-based standard of best practice. PMID:26512773

  3. Laparoscopic extirpation of giant adrenal ganglioneuroma

    PubMed Central

    Abraham, George P; Siddaiah, Avinash T; Das, Krishanu; Krishnamohan, Ramaswami; George, Datson P; Abraham, Jisha J; Chandramathy, Sreerenjini K

    2014-01-01

    Laparoscopic adrenalectomy is the standard of care for management of adrenal neoplasms. However, large sized adrenal lesions are considered as relative contraindication for laparoscopic extirpation. We report laparoscopic excision of giant ganglioneuroma of adrenal gland in a 33-year-old female patient. Patient was presented with left loin pain of 2 months duration. Computed tomography (CT) scan was suggestive of non-enhancing left suprarenal mass measuring 17 × 10 cm. Preoperative endocrine evaluation ruled out functional adrenal tumor. Patient underwent transperitoneal excision of suprarenal mass. The lesion could be completely extirpated laparoscopically. Duration of surgery was 250 minutes. Estimated blood loss was 230 milliliters. Specimen was extracted through pfannenstiel incision. No significant intraoperative or postoperative happenings were recorded. Microscopic features were suggestive of ganglioneuroma of adrenal gland. PMID:24501511

  4. Per Oral Endoscopic Myotomy for Achalasia: A Detailed Description of the Technique and Review of the Literature.

    PubMed

    Grimes, Kevin L; Inoue, Haruhiro

    2016-05-01

    Historically, the most robust outcomes in treatment of achalasia were seen with surgical myotomy. Per oral endoscopic myotomy (POEM) introduced an endoscopic method for creating a surgical myotomy. Thousands of cases of POEM have been performed; however, there is no standard technique, and the rates of clinical success and adverse events vary widely among centers. This article presents a detailed description of the POEM technique, including the rationale and potential pitfalls of the main variations, in the context of the international literature. PMID:27112254

  5. [Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].

    PubMed

    Xie, Ting; Zheng, Ji-Peng; Huang, Yong-Lan; Fan, Chun; Wu, Dong-Yan; Tan, Min-Yi; Li, Xiu-Zhen; Cheng, Jing; Liu, Li

    2015-05-01

    This article reported the clinical manifestations, steroid profiles and adrenal ultrasound findings in two unrelated Chinese girls with lipoid congenital adrenal hyperplasia (LCAH). Direct DNA sequencing and restriction fragment length polymorphism (RFLP) analysis were used to identify the mutations of steroidogenic acute regulatory protein (StAR) gene. The two patients with 46,XX karyotype, presented hyperpigmentation, growth retardation, and hyponatremia. Steroid profiles analysis revealed elevated plasma adrenocorticotrophic hormone levels, decreased or normal serum cortisol levels and low levels of androgens. Ultrasound examinations revealed that enlarged adrenals in patient 1 and normal adrenals in patient 2. Direct DNA sequencing of StAR gene showed a reported homozygous for c.772C>T(p.Q258X) in patient 1. Compound heterozygous for c.367G>A(p.E123K) and IVS4+2T>A (both novel mutations) were found in patient 2, inherited from her mother and father respectively. The amino acid of mutant position of the novel p.E123K was highly conserved in ten different species and was predicted to have impacts on the structure and function of StAR protein by the PolyPhen-2 prediction software. RFLP analysis revealed three bands (670, 423 and 247 bp) in patient 2 and her father and two bands (423 and 247 bp) in her mother and 50 controls. It is concluded that LCAH should be considered in girls with early onset of adrenal insufficiency and that steroid profiles, karyotype analysis, adrenal ultrasound and StAR gene analysis may be helpful for the definite diagnosis of LCAH.

  6. Maldigestion from pancreatic exocrine insufficiency.

    PubMed

    Pongprasobchai, Supot

    2013-12-01

    Pancreatic exocrine insufficiency (PEI) is one of the long-term consequences of chronic pancreatitis (CP). Majority of patients with PEI were undiagnosed or undertreated. Inadequately treated or subclinical severe PEI causes malnutrition and may pose the patients at risk of premature atherosclerosis and cardiovascular events. Indication of pancreatic enzyme replacement therapy (PERT) is patients with severe PEI, as indicated by the presence of steatorrhea, diarrhea, weight loss, fecal fat > 7 g/day, (13) C-mixed triglyceride breath test < 29%, fecal elastase < 100 ug/g stool, imaging or endoscopic findings of pancreatic ductal dilatation or calculi, and eight endosonographic criteria of CP. The mainstay treatment of PEI is PERT. Dietary fat restriction is unnecessary. PERT with lipase > 40,000 U per meal is recommended. Enteric-coating may be preferred to conventional enzymes because of the availability of high-dose preparations and no need of acid suppression co-therapy. Administration of enzymes with meals is proven to be the most effective regimen. Response to PERT should be measured by the improvement of patients' symptoms, nutritional status, and, in selected cases, by fecal fat or (13) C-mixed triglyceride breath test. Patients unresponsive to PERT should be checked for compliance, increase the dose of lipase to 90,000 units/meal or co-therapy with proton pump inhibitor. In patient with previous gastrointestinal surgery that may interfere enzyme-food mixing, opening the capsules and administering the enzyme granules with meals. Finally, search for small intestinal bacterial overgrowth syndrome and other causes of small bowel malabsorption. PMID:24251713

  7. [Diagnosis and therapy of cervical insufficiency].

    PubMed

    Matijević, Ratko; Grgić, Ozren; Klobucar, Ante

    2003-01-01

    Cervical insufficiency is one of the risk factors for late spontaneous miscarriage and preterm labor. As cervical insufficiency can reoccur in the every subsequent pregnancy, there is a need for precise diagnostic modality and therapeutic procedure in order to reduce perinatal mortality and morbidity. Traditionally, the diagnosis of cervical insufficiency was made based on the patient's history. In this cases the intervention in the form of the cervical cerclage, was not found to be useful, i.e. perinatal mortality and morbidity remained unchanged. It is a similar situation in cervical insufficiency suspected based on hysterosalpingography and clinical examination. Recently, ultrasound, or more precisely transvaginal cervical assessment--cervicometry, was introduced in order to assess the morphological changes indicative for cervical insufficiency. In this literature review, we analyzed ultrasound based markers of cervical insufficiency, with their specificity, sensitivity, positive and negative predictive value, as well as usefulness of cervical cerclage in such cases.

  8. Sonography of the adrenal glands in the adult.

    PubMed

    Kim, Kyoung Won; Kim, Jeong Kon; Choi, Hyuck Jae; Kim, Mi-hyun; Lee, Jeongjin; Cho, Kyoung-Sik

    2012-01-01

    Although its capability has been overlooked, sonography can be a useful screening tool for adrenal lesion in adults. In this article, we discuss scan technique, patient positioning, and anatomic consideration for adrenal sonography in adults and illustrate sonographic appearance of normal adrenal gland as well as adrenal tumors and tumor-like lesions.

  9. Clinicopathological correlates of adrenal Cushing's syndrome.

    PubMed

    Duan, Kai; Hernandez, Karen Gomez; Mete, Ozgur

    2015-06-01

    Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease. PMID:26045561

  10. Clinicopathological correlates of adrenal Cushing's syndrome.

    PubMed

    Duan, Kai; Gomez Hernandez, Karen; Mete, Ozgur

    2015-03-01

    Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease. PMID:25425660

  11. Modulation of adrenal gap junction expression.

    PubMed

    Murray, S A; Shah, U S

    1998-01-01

    To increase our knowledge of the role of peptide hormone stimulation in gap junction protein expression and adrenal cortical cell function, primary rat adrenal cortical cells were treated with adrenocorticotropin, and gap junction proteins were measured. Immunocytochemistry and western blot analysis were used to detect and characterize gap junction type and distribution. The gap junction protein, connexin 43 (alpha 1), was detected. Analysis of six connexin protein types did not reveal gap junction species other than alpha 1. Cells of the inner adrenal cortical zones, zonae fasciculata and reticularis, were demonstrated to have the highest number of gap junctions per cell in the adrenal gland. Adrenal cell cultures enriched for the two inner cortical adrenal zones were established and demonstrated also to express alpha 1 gap junction protein. Adrenocorticotropin (40 mUnits/ml) and dibutyryl cyclic adenosine monophosphate (1 mM) treatments increased alpha 1 gap junction protein levels and decreased cell proliferation rates in the cell cultures. The results are consistent with the hypothesis that gap junction expression can be regulated by adrenocorticotropin acting through the second messenger cyclic adenosine monophosphate. It can be suggested that gap junction expression in the adrenal gland may be under hormonal influence, and that gap junctions serve as passage for movement of molecules involved in control of cell proliferation. PMID:9694574

  12. Clinicopathological correlates of adrenal Cushing's syndrome.

    PubMed

    Duan, Kai; Gomez Hernandez, Karen; Mete, Ozgur

    2015-03-01

    Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease.

  13. Clinicopathological correlates of adrenal Cushing's syndrome.

    PubMed

    Duan, Kai; Hernandez, Karen Gomez; Mete, Ozgur

    2015-06-01

    Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease.

  14. Effects of intra-abdominal pressure on adrenal gland function and morphology in rats.

    PubMed

    Akkapulu, Nezih; Tirnaksiz, Mehmet Bulent; Kulac, Ibrahim; Tezel, Gaye Guler; Hayran, Mutlu; Dogrul, Ahmet Bulent; Cetinkaya, Erdinc; Yorganci, Kaya

    2015-01-01

    Intra-abdominal hypertension and abdominal compartment syndrome (IAH/ACS) are life-threatening conditions and caused by several clinical status. Although there is insufficient data regarding its effects on adrenal glands. This study aimed to identify whether elevated intra-abdominal pressure (IAP) caused any alteration on the morphology and function of adrenal glands in a rat model. Twenty four Sprague-Dawley male rats were included in the study. Animals were allocated into 4 groups. IAP was elevated to 15 mmHg for one hour and four hours in group 2 and 4. Group 1 and 3 were sham groups. Blood samples were taken for the assessment of plasma adrenaline, noradrenaline, and corticosterone levels and adrenalectomies were performed to evaluate apoptosis. Blood adrenaline, noradrenaline and corticosterone levels were significantly higher in the study groups compared with the sham groups. However, there were no significant changes in apoptotic index scores in the study groups as compared to sham groups. These results support that increased IAH leads to discharge of catecholamine and corticosterone from the adrenal glands. Failure to demonstrate similar changes in apoptotic index score may be concluded as apoptosis is not a leading pathway for impairment of adrenal glands during IAH period.

  15. Exocrine pancreatic insufficiency following esophagectomy.

    PubMed

    Huddy, J R; Macharg, F M S; Lawn, A M; Preston, S R

    2013-08-01

    Weight loss following esophagectomy is a management challenge for all patients. It is multifactorial with contributing factors including loss of gastric reservoir, rapid small bowel transit, malabsorption, and adjuvant chemotherapy. The development of a postoperative malabsorption syndrome, as a result of exocrine pancreatic insufficiency (EPI), is recognized in a subgroup of patients following gastrectomy. This has not previously been documented following esophageal resection. EPI can result in symptoms of flatulence, diarrhea, steatorrhea, vitamin deficiencies, and weight loss. It therefore has the potential to pose a significant level of morbidity in postoperative patients. There is some evidence that patients with proven EPI (fecal elastase-1 < 200 μg/g) may benefit from a trial of pancreatic enzyme replacement therapy (PERT). We observed symptoms compatible with EPI in a subgroup of patients following esophagectomy. We hypothesized that this was contributing to malabsorption and malnutrition in these patients. To investigate this, fecal elastase-1 was measured in postoperative patients, and in those with proven EPI, a trial of PERT was commenced in combination with specialist dietary education. At routine postoperative follow-up, which included assessment by a specialist dietitian, those patients with symptoms suggestive of malabsorption were given the opportunity to have their fecal elastase-1 measured. PERT was then offered to patients with fecal elastase-1 less than 200 μg/g (EPI) as well as those in the 200-500 μg/g range (mild EPI) with more severe symptoms. Fecal elastase-1 was measured in 63 patients between June 2009 and January 2011 at a median of 4 months (range 1-42) following surgery. Ten patients had fecal elastase-1 less than 200 μg/g, and all had failed to maintain preoperative weight. All accepted a trial of PERT. Nine (90%) had symptomatic improvement, and seven (70%) increased their weight. Thirty-nine patients had a fecal elastase-1 in

  16. Muscarine binding sites in bovine adrenal medulla.

    PubMed

    Barron, B A; Murrin, L C; Hexum, T D

    1986-03-18

    The presence of muscarinic binding sites in the bovine adrenal medulla was investigated using [3H]QNB and the bovine adrenal medulla. Scatchard analysis combined with computer analysis yielded data consistent with a two binding site configuration. KDs of 0.15 and 14 nM and Bmax s of 29 and 210 fmol/mg protein, respectively, were observed. Displacement of [3H]QNB by various cholinergic agents is, in order of decreasing potency: QNB, dexetimide, atropine, scopolamine, imipramine, desipramine, oxotremorine, pilocarpine, acetylcholine, methacholine and carbachol. These results demonstrate the presence of more than one muscarine binding site in the bovine adrenal gland. PMID:3709656

  17. Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

    PubMed

    Hervé, Dominique; Philippi, Anne; Belbouab, Reda; Zerah, Michel; Chabrier, Stéphane; Collardeau-Frachon, Sophie; Bergametti, Francoise; Essongue, Aurore; Berrou, Eliane; Krivosic, Valérie; Sainte-Rose, Christian; Houdart, Emmanuel; Adam, Frédéric; Billiemaz, Kareen; Lebret, Marilyne; Roman, Sabine; Passemard, Sandrine; Boulday, Gwenola; Delaforge, Audrey; Guey, Stéphanie; Dray, Xavier; Chabriat, Hugues; Brouckaert, Peter; Bryckaert, Maryjke; Tournier-Lasserve, Elisabeth

    2014-03-01

    Moyamoya is a cerebrovascular condition characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and the compensatory development of abnormal "moyamoya" vessels. The pathophysiological mechanisms of this condition, which leads to ischemic and hemorrhagic stroke, remain unknown. It can occur as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes). Here, we describe an autosomal-recessive disease leading to severe moyamoya and early-onset achalasia in three unrelated families. This syndrome is associated in all three families with homozygous mutations in GUCY1A3, which encodes the α1 subunit of soluble guanylate cyclase (sGC), the major receptor for nitric oxide (NO). Platelet analysis showed a complete loss of the soluble α1β1 guanylate cyclase and showed an unexpected stimulatory role of sGC within platelets. The NO-sGC-cGMP pathway is a major pathway controlling vascular smooth-muscle relaxation, vascular tone, and vascular remodeling. Our data suggest that alterations of this pathway might lead to an abnormal vascular-remodeling process in sensitive vascular areas such as ICA bifurcations. These data provide treatment options for affected individuals and strongly suggest that investigation of GUCY1A3 and other members of the NO-sGC-cGMP pathway is warranted in both isolated early-onset achalasia and nonsyndromic moyamoya. PMID:24581742

  18. Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

    PubMed Central

    Hervé, Dominique; Philippi, Anne; Belbouab, Reda; Zerah, Michel; Chabrier, Stéphane; Collardeau-Frachon, Sophie; Bergametti, Francoise; Essongue, Aurore; Berrou, Eliane; Krivosic, Valérie; Sainte-Rose, Christian; Houdart, Emmanuel; Adam, Frédéric; Billiemaz, Kareen; Lebret, Marilyne; Roman, Sabine; Passemard, Sandrine; Boulday, Gwenola; Delaforge, Audrey; Guey, Stéphanie; Dray, Xavier; Chabriat, Hugues; Brouckaert, Peter; Bryckaert, Maryjke; Tournier-Lasserve, Elisabeth

    2014-01-01

    Moyamoya is a cerebrovascular condition characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and the compensatory development of abnormal “moyamoya” vessels. The pathophysiological mechanisms of this condition, which leads to ischemic and hemorrhagic stroke, remain unknown. It can occur as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes). Here, we describe an autosomal-recessive disease leading to severe moyamoya and early-onset achalasia in three unrelated families. This syndrome is associated in all three families with homozygous mutations in GUCY1A3, which encodes the α1 subunit of soluble guanylate cyclase (sGC), the major receptor for nitric oxide (NO). Platelet analysis showed a complete loss of the soluble α1β1 guanylate cyclase and showed an unexpected stimulatory role of sGC within platelets. The NO-sGC-cGMP pathway is a major pathway controlling vascular smooth-muscle relaxation, vascular tone, and vascular remodeling. Our data suggest that alterations of this pathway might lead to an abnormal vascular-remodeling process in sensitive vascular areas such as ICA bifurcations. These data provide treatment options for affected individuals and strongly suggest that investigation of GUCY1A3 and other members of the NO-sGC-cGMP pathway is warranted in both isolated early-onset achalasia and nonsyndromic moyamoya. PMID:24581742

  19. Peroral endoscopic myotomy (POEM) vs laparoscopic Heller myotomy (LHM) for the treatment of Type III achalasia in 75 patients: a multicenter comparative study

    PubMed Central

    Kumbhari, Vivek; Tieu, Alan H; Onimaru, Manabu; El Zein, Mohammad H.; Teitelbaum, Ezra N.; Ujiki, Michael B.; Gitelis, Matthew E.; Modayil, Rani J.; Hungness, Eric S.; Stavropoulos, Stavros N.; Shiwaku, Hiro; Kunda, Rastislav; Chiu, Philip; Saxena, Payal; Messallam, Ahmed A.; Inoue, Haruhiro; Khashab, Mouen A.

    2015-01-01

    Background and study aims: Type III achalasia is characterized by rapidly propagating pressurization attributable to spastic contractions. Although laparoscopic Heller myotomy (LHM) is the current gold standard management for type III achalasia, peroral endoscopic myotomy (POEM) is conceivably superior because it allows for a longer myotomy. Our aims were to compare the efficacy and safety of POEM with LHM for type III achalasia patients. Patients and methods: A retrospective study of 49 patients who underwent POEM for type III achalasia across eight centers were compared to 26 patients who underwent LHM at a single institution. Procedural data were abstracted and pre- and post-procedural symptoms were recorded. Clinical response was defined by improvement of symptoms and decrease in Eckardt stage to ≤ 1. Secondary outcomes included length of myotomy, procedure duration, length of hospital stay, and rate of adverse events. Results: Clinical response was significantly more frequent in the POEM cohort (98.0 % vs 80.8 %; P = 0.01). POEM patients had significantly shorter mean procedure time than LHM patients (102 min vs 264 min; P < 0.01) despite longer length of myotomy (16 cm vs 8 cm; P < 0.01). There was no significant difference between POEM and LHM in the length of hospital stay (3.3 days vs 3.2 days; P = 0.68), respectively. Rate of adverse events was significantly less in the POEM group (6 % vs 27 %; P < 0.01). Conclusions: POEM allows for a longer myotomy than LHM, which may result in improved clinical outcomes. POEM appears to be an effective and safe alternative to LHM in patients with type III achalasia. PMID:26171430

  20. A case of adrenal Cushing’s syndrome with bilateral adrenal masses

    PubMed Central

    Guo, Ya-Wun; Hwu, Chii-Min; Won, Justin Ging-Shing; Chu, Chia-Huei

    2016-01-01

    Summary A functional lesion in corticotrophin (ACTH)-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL). No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses. Learning points The clinical presentation of Cushing’ syndrome includes symptoms and signs of fat redistribution and protein-wasting features. The diagnosis of patients with ACTH-independent Cushing’s syndrome with bilateral adrenal masses is challenging for localisation of the lesion. Both adrenal venous sampling and 131I-NP-59 scintigraphy are good methods to use in these patients with Cushing’s syndrome presenting with bilateral adrenal masses. PMID:27252858

  1. Presence of kisspeptin-like immunoreactivity in human adrenal glands and adrenal tumors.

    PubMed

    Takahashi, Kazuhiro; Shoji, Itaru; Shibasaki, Akiko; Kato, Ichiro; Hiraishi, Keisuke; Yamamoto, Hajime; Kaneko, Kiriko; Murakami, Osamu; Morimoto, Ryo; Satoh, Fumitoshi; Ito, Sadayoshi; Totsune, Kazuhito

    2010-05-01

    Kisspeptins are neuropeptides which activate the hypothalamo-pituitary gonadal axis and are considered to play important physiological roles in the reproduction. Kisspeptins have also been reported to stimulate the aldosterone secretion from the adrenal cortex. However, the expression of kisspeptins in human adrenal glands and adrenal tumors has not been clarified yet. We, therefore, studied the presence of kisspeptin-like immunoreactivity (LI) in human adrenal glands and adrenal tumors (adrenocortical adenomas, adrenocortical carcinomas, and pheochromocytomas) by radioimmunoassay and immunocytochemistry. Kisspeptin-LI was detected in all the tissues examined; normal portions of adrenal glands (3.0 +/- 2.3 pmol/g wet weight, n = 21, mean +/- SD), aldosterone-producing adenomas (4.6 +/- 3.3 pmol/g wet weight, n = 10), cortisol-producing adenomas (2.7 +/- 1.4 pmol/g wet weight, n = 14), adrenocortical carcinomas (1.7 +/- 0.2 pmol/g wet weight, n = 4), and pheochromocytomas (1.8 +/- 0.8 pmol/g wet weight, n = 6). There was no significant difference in kisspeptin-LI levels among them. Immunocytochemistry showed positive kisspeptin-immunostaining in normal adrenal glands, with stronger immunostaining found in the medulla. Furthermore, positive kisspeptin-immunostaining was found in all types of adrenal tumors examined; adrenocortical adenomas, adrenocortical carcinomas, and pheochromocytomas. The intensity of kisspeptin-immunostaining in these adrenal tumors was, however, not so strong as that in normal adrenal medulla. The present study has shown for the first time the presence of kisspeptin-LI in adrenal glands and adrenal tumors.

  2. Radiology of the adrenals with sonography and CT

    SciTech Connect

    Mitty, H.A.; Yeh, H.C.

    1982-01-01

    The basic science and application of clinical adrenal imaging is presented. The initial chapters deal with anatomic review and methods of adrenal imaging. The bulk of the book consists of individual chapters describing pathologic entities and syndromes of adrenal disease. The final chapter deals with differentiation of adrenal lesions from masses arising in adjacent organs. There is no other single source available which so concisely presents adrenal imaging. (KRM)

  3. Activities against hemostatic proteins and adrenal gland ultrastructural changes caused by the brown widow spider Latrodectus geometricus (Araneae: Theridiidae) venom.

    PubMed

    Guerrero, Belsy; Finol, Hector J; Reyes-Lugo, Matias; Salazar, Ana M; Sánchez, Elda E; Estrella, Amalid; Roschman-González, Antonio; Ibarra, Carlos; Salvi, Ivan; Rodríguez-Acosta, Alexis

    2010-01-01

    Brown widow spider (BrWS) (Latrodectus geometricus) venom produces intense systemic reactions such as cramps, harsh muscle nociceptive, nauseas, vomiting and hypertension. The proposed pathogenic mechanisms resulting in these accidents have principally been damages occurring at the nervous system. However, it is suspected that there is also damage of the adrenal glands, as a result of the experimental animal's clinical manifestations, which developed symptoms compatible with acute adrenal insufficiency. We have currently found that the adrenal gland is damaged by this venom gland homogenates (VGH) producing severe alterations on cortex cells resulting in death by acute adrenal insufficiency. In general, the ultrastructural study on the glands of mice under transmission electronic microscopy observations showed alterations in the majority of the intracellular membranes within 3 to 24h. BrWSVGH also showed specific actions on extracellular matrix proteins such as fibronectin, laminin and fibrinogen. In addition, zymogram experiments using gelatin as substrates detected gelatinolytic activity. The molecular exclusion fractionation of crude BrWSVGH resulted in 15 fractions, of which F1 and F2 presented alpha/beta-fibrinogenase and fibronectinolytic activities. Fractions F6, F14 and F15 showed only alpha-fibrinogenase activity; in contrast, the gelatinolytic action was only observed in fraction F11. Only metalloproteinase inhibitors abolished all these proteolytic activities. Our results suggest that adrenal cortex lesions may be relevant in the etiopathogenesis of severe brown widow spider envenoming. To our knowledge, this is the first report on adrenal gland damages, fibrinogenolytic activity and interrelations with cell-matrix adhesion proteins caused by L.geometricus VGH. The venom of this spider could be inducing hemostatic system damages on envenomed patients.

  4. Acroangiodermatitis secondary to chronic venous insufficiency.

    PubMed

    Palmer, Benjamin; Xia, Yang; Cho, Sunghun; Lewis, Felisa S; Lewis, Felicia S

    2010-11-01

    Acroangiodermatitis (AAD) is a benign uncommon vasoproliferative disorder that affects the lower extremities. It appears to be a reactive phenomenon related to severe chronic Venous insufficiency and stasis of the lower extremities. The clinical presentation of this condition often is similar to Kaposi sarcoma. We report a case of AAD in a patient with severe hypertension and chronic venous insufficiency. PMID:21214123

  5. 33 CFR 125.29 - Insufficient information.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 2 2012-07-01 2012-07-01 false Insufficient information. 125.29... VESSELS § 125.29 Insufficient information. (a)(1) If, in the judgment of the Commandant, an application does not contain sufficient information to enable him to satisfy himself that the character and...

  6. 33 CFR 125.29 - Insufficient information.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 33 Navigation and Navigable Waters 2 2014-07-01 2014-07-01 false Insufficient information. 125.29... VESSELS § 125.29 Insufficient information. (a)(1) If, in the judgment of the Commandant, an application does not contain sufficient information to enable him to satisfy himself that the character and...

  7. [A rare form of adrenal tuberculosis presenting as an asymptomatic adrenal mass].

    PubMed

    Sarf, Ismail; el Mejjad, Amine; Badre, Latifa; Dakir, Mohamed; Aboutaieb, Rachid; Meziane, Fethi

    2003-02-01

    The authors report a case of adrenal tuberculosis discovered during staging of a biopsy-confirmed bladder tumour, in a 70-year-old patient consulting for haematuria. Cystoscopy with biopsy revealed a high-grade papillary urothelial carcinoma invading the detrusor. Staging abdominopelvic computed tomography revealed a necrotic, multilobed right adrenal mass. Histological examination of the adrenalectomy specimen revealed adrenal tuberculosis. Antituberculous therapy was administered for 9 months and comprised streptomycin, isoniazid, rifampicin and pyrazinamide for 2 months, followed by rifampicin and isoniazid for 7 months. In the light of this case and with the increasing incidence of AIDS, the diagnosis of adrenal tuberculosis must be considered in any case of incidentaloma.

  8. Bilateral adrenal myelolipoma in Cushing's disease: a relook into the role of corticotropin in adrenal tumourigenesis.

    PubMed

    Chakraborty, Partha Pratim; Bhattacharjee, Rana; Mukhopadhyay, Pradip; Chowdhury, Subhankar

    2016-01-01

    Adrenal myelolipomas are infrequently encountered benign tumours of unknown aetiology. In the majority of cases they are unilateral, and clinically and hormonally silent, only requiring periodic follow-up. However, bilateral adrenal myelolipomas are sometimes associated with endocrine disorders and warrant appropriate evaluation. Though the understanding of the pathophysiology of adrenal myelolipomas has long been elusive, adrenocorticotropic hormone (ACTH) has been proposed as the main tropic factor in a number of studies. Cushing's disease is rarely associated with bilateral and sometimes giant myelolipomas. In this article, the association of bilateral adrenal myelolipomas with Cushing's disease has been discussed and the role of ACTH in the tumourigenesis has been reviewed. PMID:27307426

  9. Bilateral adrenal myelolipoma in Cushing's disease: a relook into the role of corticotropin in adrenal tumourigenesis.

    PubMed

    Chakraborty, Partha Pratim; Bhattacharjee, Rana; Mukhopadhyay, Pradip; Chowdhury, Subhankar

    2016-01-01

    Adrenal myelolipomas are infrequently encountered benign tumours of unknown aetiology. In the majority of cases they are unilateral, and clinically and hormonally silent, only requiring periodic follow-up. However, bilateral adrenal myelolipomas are sometimes associated with endocrine disorders and warrant appropriate evaluation. Though the understanding of the pathophysiology of adrenal myelolipomas has long been elusive, adrenocorticotropic hormone (ACTH) has been proposed as the main tropic factor in a number of studies. Cushing's disease is rarely associated with bilateral and sometimes giant myelolipomas. In this article, the association of bilateral adrenal myelolipomas with Cushing's disease has been discussed and the role of ACTH in the tumourigenesis has been reviewed.

  10. [Sexual and gonadal dysfunction in adrenal disorders].

    PubMed

    Horiba, N

    1997-11-01

    Among various diseases of the adrenals, major disorders that cause sexual and gonadal disturbances are congenital adrenal hyperplasia(CAH) and Cushing's syndrome, and the others include virilizing or feminizing adrenocortical tumors. CAH was reviewed based on the recent advances in molecular genetics. The most striking discovery was steroidogenic acute regulatory protein, mutations of which produce lipoid adrenal hyperplasia that was previously attributed to P-450scc deficiency. Reversible amenorrhea or impotence is found in patients with Cushing's syndrome. Low plasma estrogen and testosterone levels are associated with female and male patients, respectively. Elevated adrenal androgen accounts for mild virilization in female patients with ACTH-dependent subtypes. The sites of action at which hypercortisolemia suppresses the hypothalamic-pituitary-gonadal axis were discussed.

  11. The innervation of the mammalian adrenal gland.

    PubMed Central

    Parker, T L; Kesse, W K; Mohamed, A A; Afework, M

    1993-01-01

    Early conflicting reports and the lack of sensitive anatomical methods have led to an oversimplified view of adrenal gland innervation. It was not until the introduction of nerve fibre tracing techniques in the mid-1970s that the true complexity of adrenal innervation began to emerge. The first part of this article comprises a brief review of these and other relevant reports dealing with both medullary and cortical innervation. In the second part a detailed account is given of the work undertaken in Rex Coupland's Department relating to the innervation of the rodent and primate adrenal medulla using a retrograde fluorescent tracer technique. It was concluded that, in all 3 species studied, the adrenal medulla receives a sympathetic and parasympathetic efferent and an afferent innervation. The possible interrelationship between neural control of cortical and medullar secretions is discussed briefly. Images Fig. 1 Fig. 2 Fig. 5 PMID:8300416

  12. Image-Guided Ablation of Adrenal Lesions

    PubMed Central

    Yamakado, Koichiro

    2014-01-01

    Although laparoscopic adrenalectomy has remained the standard of care for the treatment for adrenal tumors, percutaneous image-guided ablation therapy, such as chemical ablation, radiofrequency ablation, cryoablation, and microwave ablation, has been shown to be clinically useful in many nonsurgical candidates. Ablation therapy has been used to treat both functioning adenomas and malignant tumors, including primary adrenal carcinoma and metastasis. For patients with functioning adenomas, biochemical and symptomatic improvement is achieved in 96 to 100% after ablation; for patients with malignant adrenal neoplasms, however, the survival benefit from ablation therapy remains unclear, though good initial results have been reported. This article outlines the current role of ablation therapy for adrenal lesions, as well as identifying some of the technical considerations for this procedure. PMID:25049444

  13. Adrenal hemangioma: computed tomogram and angiogram appearances.

    PubMed

    Wang, J H; Chiang, J H; Chang, T

    1992-08-01

    Adrenal hemangiomas are rare. To our knowledge, about 22 cases have been reported in the literature, of which 13 cases were surgically removed. We report probably the first case of CT and angiographically diagnosed and surgically confirmed adrenal hemangioma in Taiwan. We concluded that characteristic appearances on computed tomogram and angiogram associated with phlebolith-like calcification in the tumor may allow the radiologists to make correct preoperative diagnosis. PMID:1327475

  14. Hormonal and metabolic evaluation of adrenal incidentalomas.

    PubMed

    Wagnerova, H; Dudasova, D; Lazurova, I

    2009-01-01

    The biochemical and hormonal data in patients with adrenal incidentalomas were evaluated to compare the differences between adrenal adenomas and other benign lesions and to find the relationship between metabolic parameters and adrenal hormones. Ninety two patients (29men, age 20-90 years) with incidentally discovered unilateral or bilateral adrenal masses detected on CT were included in this study for the reasons others than adrenal pathology. Glycemia, cholesterolemia, triglyceridemia, hormonal evaluation including plasma ACTH, plasma aldosterone, plasma renin acitivity, overnight dexametasone test, ACTH test, free plasma metanephrines, urinary catecholamines were determined. In the group of patients with adrenal masses the prevalence of arterial hypertension was three fold higher, the prevalence of DM was approximately five fold higher and the prevalence of the overweight and obesity two fold higher than is reported in the general population. The most frequent adrenal masses were nonfunctional masses, the occurence of functional lesions was as follows: steroid enzymopathies (an exaggerated response of 17-OHP indicating a possible 21-hydroxylase deficiency), subclinical Cushing syndrome, primary aldosteronism and pheochromocytoma (5%, 2%, 2% and 1% respectively). There were no significant differences in evaluated data between patients with adenomas and hyperplasia and also no significant difference in evaluated data between lesions smaller than 3 cm and lesions greater than 3 cm. We did not find any correlations between plasma cortisol and lipid values. In this study we confirmed a higher prevalence of symptoms characteristic for different metabolic syndromes in these patients with adrenal incidentalomas, which indicate systematic screening for the metabolic syndrome including evaluation of the insuline resistance in this patients. PMID:19728761

  15. Cervical insufficiency and cervical cerclage.

    PubMed

    Brown, Richard; Gagnon, Robert; Delisle, Marie-France; Gagnon, Robert; Bujold, Emmanuel; Basso, Melanie; Bos, Hayley; Brown, Richard; Cooper, Stephanie; Crane, Joan; Davies, Gregory; Gouin, Katy; Menticoglou, Savas; Mundle, William; Pylypjuk, Christy; Roggensack, Anne; Sanderson, Frank; Senikas, Vyta

    2013-12-01

    Objectif : La présente directive clinique a pour but de fournir un cadre de référence que les cliniciens pourront utiliser pour identifier les femmes qui sont exposées aux plus grands risques de connaître une insuffisance cervicale, ainsi que pour déterminer les circonstances en présence desquelles la mise en place d’un cerclage pourrait s’avérer souhaitable. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en 2012 au moyen d’un vocabulaire contrôlé (p. ex. « uterine cervical incompetence ») et de mots clés appropriés (p. ex. « cervical insufficiency », « cerclage », « Shirodkar », « cerclage », « MacDonald », « cerclage », « abdominal », « cervical length », « mid-trimester pregnancy loss »). Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles. Aucune restriction n’a été appliquée en matière de date ou de langue. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en janvier 2011. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales. Valeurs : La qualité des résultats est évaluée au moyen des critères décrits dans le rapport du Groupe d’étude canadien sur les soins de santé préventifs (Tableau). Recommandations 1. Les femmes qui sont enceintes ou qui planifient connaître une grossesse devraient faire l’objet d’une évaluation visant les facteurs de

  16. The agonistic adrenal: melatonin elicits female aggression via regulation of adrenal androgens.

    PubMed

    Rendon, Nikki M; Rudolph, Lauren M; Sengelaub, Dale R; Demas, Gregory E

    2015-11-22

    Classic findings have demonstrated an important role for sex steroids as regulators of aggression, but this relationship is lacking within some environmental contexts. In mammals and birds, the adrenal androgen dehydroepiandrosterone (DHEA), a non-gonadal precursor of biologically active steroids, has been linked to aggression. Although females, like males, use aggression when competing for limited resources, the mechanisms underlying female aggression remain understudied. Here, we propose a previously undescribed endocrine mechanism regulating female aggression via direct action of the pineal hormone melatonin on adrenal androgens. We examined this in a solitary hamster species, Phodopus sungorus, in which both sexes are highly territorial across the seasons, and display increased aggression concomitant with decreased serum levels of sex steroids in short 'winter-like' days. Short- but not long-day females had increased adrenal DHEA responsiveness co-occurring with morphological changes in the adrenal gland. Further, serum DHEA and total adrenal DHEA content were elevated in short days. Lastly, melatonin increased DHEA and aggression and stimulated DHEA release from cultured adrenals. Collectively, these findings demonstrate that DHEA is a key peripheral regulator of aggression and that melatonin coordinates a 'seasonal switch' from gonadal to adrenal regulation of aggression by direct action on the adrenal glands.

  17. Failure to visualize adrenal glands in a patient with bilateral adrenal hyperplasia. [/sup 131/I

    SciTech Connect

    Gordon, L.; Mayfield, R.K.; Levine, J.H.; Lopes-Virella, M.F.; Sagel, J.; Buse, M.G.

    1980-01-01

    A patient with clinical and biochemical evidence of Cushing's disease and severe hyperlipidemia underwent an adrenal imaging procedure with NP-59 (6..beta..-(/sup 131/I)iodomethyl-19-norcholesterol), without visualization of either gland. Correction of the hyperlipidemia followed by repeated adrenal imaging resulted in bilateral visualization. A pituitary tumor was removed at surgery, confirming the diagnosis of Cushing's disease.

  18. Primary Bilateral Non-Hodgkin's Lymphoma of the Adrenal Gland Presenting as Incidental Adrenal Masses

    PubMed Central

    Rizzo, Christopher; Camilleri, David James; Gatt, Andre'

    2015-01-01

    Although lymphoma may occasionally involve the adrenal glands as part of a generalized disease process, primary adrenal lymphoma (PAL) is a rare disease. We present a case of a 62-year-old woman with a history of mild/moderate hereditary spherocytosis with a well-compensated baseline haemoglobin, who presented with rapidly progressive symptomatic anaemia. During the diagnostic workup, imaging revealed bilateral large adrenal masses and she was later diagnosed with diffuse large B-cell non-Hodgkin's lymphoma (DLBCL), with the adrenal glands being the dominant site of the disease. The patient was started on systemic chemotherapy, but her disease progressed with neurological involvement which responded to second-line therapy. Her adrenal disease however was refractory to further therapy. PMID:26681947

  19. Diagnosis of adrenal tumors with radionuclide imaging

    SciTech Connect

    Beierwaltes, W.H.; Sisson, J.C.; Shapiro, B.

    1984-01-01

    The development of radiolabeled cholesterols in 1969 as precursors of adrenocortical steroid production allowed the first noninvasive imaging of the adrenal cortices. FDA-NDA approval in 1984 should allow routine use of these agents in most hospitals. NP-59 is most commonly used in the diagnosis and management of Cushing syndrome; the second most common use is in the diagnosis of primary aldosteronism. It is also helpful in the differential diagnosis of adrenal and ovarian hyperandrogenism and hirsutism, and is the only noninvasive method of detecting unilateral adrenocortical hypofunction. The newest and most popular use is in the differential diagnosis of asymptomatic masses in the region of the adrenal gland discovered incidentally with CT scan (incidentalomas). In this situation, the NP-59 scan can define whether the tumor is in the adrenal gland and if it is functional or nonfunctional. The authors believe that, in the future, radiolabeled enzyme inhibitors might offer better diagnostic imaging of the adrenal cortex, although these agents will probably not be available for routine use for some time. The development of a radioiodinated guanethidine analog, /sup 131/I-MIBG, has allowed differentiation of normal adrenal medullary function from bilateral adrenal medullary hyperplasia before the development of hypertension or tachycardia, diagnostic increases in plasma or urinary catecholamines, or abnormal CT scans. The search for a pheochromocytoma should begin with /sup 131/I-MIBG scintigraphy. While over 90% of primary pheochromocytomas occur in the abdomen, neither a survey of the abdomen nor the finding of a single tumor should conclude the search.

  20. [The imaging diagnosis of adrenal tumors].

    PubMed

    Cózar Olmo, J M; Martínez-Piñeiro, J A; García-Matres, M J; Hervás, C M; Cárcamo, P; Martínez-Piñeiro, L; Avellana, J A; de la Peña, J

    1992-05-01

    From 1967 to 1991 we have diagnosed and treated 73 adrenal tumors in 63 patients: 12 pheochromocytomas, 24 adrenal cortical adenomas, 15 hyperplasias, 16 carcinomas, 3 myelolipomas, 2 cysts and 1 neuroblastoma. We conducted a retrospective study to analyze the preoperative images obtained by different diagnostic techniques and attempted to correlate tumor size and site with the results of the histological analysis of the surgical specimen. Nephrotomography with pneumoretroperitoneum and IV Nephrotomography were useful in detecting the increase of the size of the gland in 10 of 25 cases submitted to these procedures (40%). Arteriography as second or third technique of choice confirmed the presence of an adrenal tumor in 15 of the 21 cases evaluated by this procedure (70%). US and CT detected 94% (31/33) and 100% (33/33) of the cases, respectively. Fourteen cases were incidentally discovered by CT (7) and US (7). A direct relationship between tumor size and degree of malignancy could be established since the carcinomas had a mean diameter of 7 cm (range 5 to 12 cm). Concerning the histologic nature of the disease, specific images were found in 3 cases of adrenal myelolipoma (hyperechoic on US and of low density similar to fat on CT) and 2 cysts (anechoic with posterior band evidenced on us and liquid on CT). Radioisotopes were also utilized for tumor localization and there was positive uptake of I-131-IMBG in 2 cases of adrenal pheochromocytoma; 1 extra-adrenal (left lateral aortic paraganglioma) and 1 case of malignant adrenal pheochromocytoma with metastasis to the lungs.(ABSTRACT TRUNCATED AT 250 WORDS)

  1. Evaluation of anesthesia management, feasibility and efficacy of peroral endoscopic myotomy (POEM) for achalasia performed in the endoscopy unit

    PubMed Central

    Yang, Dennis; Pannu, Davinderbir; Zhang, Qing; White, Jeffrey D.; Draganov, Peter V.

    2015-01-01

    Introduction: Data on anesthesia management and outcomes associated with peroral endoscopic myotomy (POEM) performed exclusively in the endoscopy unit are limited. In this prospective study, we evaluated the safety of anesthesia management, and the feasibility and efficacy of POEM performed exclusively in the endoscopy unit. Methods: A single-center prospective study of consecutive patients with achalasia treated with POEM in an endoscopy unit was performed. Safety of anesthesia management and POEM were determined by procedure-related adverse events. Feasibility was assessed by completion rate. Short-term efficacy was established by clinical success (Eckardt score ≤ 3) and by comparing Eckardt and dysphagia scores before and after POEM. Results: Patients (n = 52) underwent POEM under general anesthesia with endotracheal intubation and positive pressure ventilation. Aspiration was prevented by keeping patients on a clear liquid diet before the procedure without requiring a prior esophagogastroduodenoscopy for esophageal content clearance. POEM completion rate was 96 % (50/52 patients). There was no post-POEM bleeding. Postprocedure leak was observed in one patient (3 %). Four patients (7.7 %) experienced mucosal injury, three of them were treated uneventfully endoscopically and one required laparoscopic repair. Clinical success was achieved in 88 % of patients. There was a significant decrease in the mean Eckardt score (8.1 to 1.4) and dysphagia score (2.4 to 0.4) (P < 0.0001) at the one month follow up after POEM. Conclusion: Anesthesia management of POEM is safe in the endoscopy unit and aspiration can be prevented without requiring prior esophagogastroduodenoscopy for esophageal content clearance. Overall, POEM performed by a gastroenterologist in the endoscopy unit was feasible and effective for the treatment of achalasia. PMID:26357672

  2. Role of adrenal imaging in surgical management

    SciTech Connect

    Lamki, L.M.; Haynie, T.P. )

    1990-03-01

    Adrenal imaging using radiopharmaceuticals is a functional test that can contribute significantly to surgical management and follow-up of patients with either benign or malignant conditions of the adrenal cortex and medulla. Imaging of the cortex is achieved by iodine-131-labeled iodomethyl nor-cholesterol (NP-59), while adrenal medulla imaging can be successfully accomplished by 131I-metaiodobenzylguanidine (MIBG), which localizes in the adrenergic nerve terminal with norepinephrine. Both tests carry high sensitivity and specificity for functional tumors and hyperplasia, and often better than CT scanning. This article reviews the current status and clinical utility of nuclear imaging of the adrenal cortex in congenital hyperplasia, low renin hypertension and aldosteronism, and Cushing's syndrome. Adrenal medulla imaging is reviewed in light of our experience at the University of Texas M.D. Anderson Cancer Center in pheochromocytoma, neuroblastoma, and other neuroectodermal tumors. Investigation of {sup 131}I-MIBG therapy of metastatic tumors of neuroectodermal origin potentially offers a means of at least controlling symptoms of hormonal secretion in these patients. 40 references.

  3. Thymus and adrenal glands in elder abuse.

    PubMed

    Hayashi, Takahito; Bunai, Yasuo; Ago, Kazutoshi; Ago, Mihoko; Ogata, Mamoru

    2011-12-01

    Endogenous glucocorticoid-induced thymic involution is generally considered to be an important finding for determining child abuse. The present study investigated the weight of the thymus and the adrenal glands in elder abuse cases to identify a potential marker for elder abuse. There was no significant difference in the thymus and the adrenal weight between elder abuse and control cases. However, the elder abuse cases in which the duration of abuse was less than 3 months showed a significant increase in the adrenal weight in comparison to control cases. In such cases, histopathological findings showed a loss of intracellular light granules from the zona fasciculata, which might indicate a loss of cholesterol due to the overproduction of glucocorticoid. These results might imply that the elderly, who were maltreated for less than 3 months, were in the early phase of a long-term stress state during which stress-induced overproduction of glucocorticoid was observed in adrenal glands as indicated by Selye. Our results suggest that an increase in adrenal weight may be a potential marker for elder abuse of relatively short periods, especially less than a few months.

  4. Adrenal Lymphangioma Masquerading as a Catecholamine Producing Tumor

    PubMed Central

    Hodish, Israel; Schmidt, Lindsay; Moraitis, Andreas G.

    2015-01-01

    Objective. To report the unusual case of an adrenal lymphangioma presenting in a patient with an adrenal cystic lesion and biochemical testing concerning for pheochromocytoma. The pertinent diagnostic and imaging features of adrenal lymphangiomas are reviewed. Methods. We describe a 59-year-old patient who presented with hyperhidrosis and a 2.2 by 2.2 cm left adrenal nodule. Biochemical evaluation revealed elevated plasma-free normetanephrine, urine normetanephrine, urine vanillylmandelic acid, and urine norepinephrine levels. Elevated plasma norepinephrine levels were not suppressed appropriately with clonidine administration. Results. Given persistent concern for pheochromocytoma, the patient underwent adrenalectomy. The final pathology was consistent with adrenal lymphangioma. Conclusions. Lymphangiomas are benign vascular lesions that can very rarely occur in the adrenal gland. Imaging findings are generally consistent with a cyst but are nonspecific. Excluding malignancy in patients presenting with adrenal cysts can be difficult. Despite its benign nature, the diagnosis of adrenal lymphangioma may ultimately require pathology. PMID:26618011

  5. How Do I Find an Experienced Adrenal Surgeon?

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Adrenal Gland Disorders: Other FAQs Skip sharing on social media links Share this: Page ... do I find an experienced adrenal surgeon? Make sure that the surgeon you choose ...

  6. What Are the Treatments for Adrenal Gland Disorders?

    MedlinePlus

    ... Resources and Publications What are the treatments for adrenal gland disorders? Skip sharing on social media links Share ... a variety of surgical and medical treatments for adrenal gland disorders. These include 1 : Surgery to remove tumors ...

  7. Image-Guided Adrenal and Renal Biopsy

    PubMed Central

    Sharma, Karun V.; Venkatesan, Aradhana M.; Swerdlow, Daniel; DaSilva, Daniel; Beck, Avi; Jain, Nidhi; Wood, Bradford J.

    2010-01-01

    Image-guided biopsy is a safe and well-established technique that is familiar to most interventional radiologists (IRs). Improvements in image-guidance, biopsy tools and biopsy techniques now routinely allow for safe biopsy of renal and adrenal lesions which traditionally were considered difficult to reach or technically challenging. Image-guided biopsy is used to establish the definitive tissue diagnosis in adrenal mass lesions that can not be fully characterized with imaging or laboratory tests alone. It is also used to establish definitive diagnosis in some cases of renal parenchymal disease and has an expanding role in diagnosis and characterization of renal masses prior to treatment. Although basic principles and techniques for image-guided needle biopsy are similar regardless of organ, this paper will highlight some technical considerations, indications and complications which are unique to the adrenal gland and kidney because of their anatomic location and physiologic features. PMID:20540919

  8. Imaging of the adrenal gland lesions.

    PubMed

    Herr, Keith; Muglia, Valdair F; Koff, Walter José; Westphalen, Antonio Carlos

    2014-01-01

    With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or "incidentaloma", has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of malignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed.

  9. Imaging of the adrenal gland lesions*

    PubMed Central

    Herr, Keith; Muglia, Valdair F.; Koff, Walter José; Westphalen, Antonio Carlos

    2014-01-01

    With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or "incidentaloma", has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of malignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed. PMID:25741090

  10. Gallium-68 PSMA uptake in adrenal adenoma.

    PubMed

    Law, W Phillip; Fiumara, Frank; Fong, William; Miles, Kenneth A

    2016-08-01

    Gallium-68 (Ga-68) labelled prostate-specific membrane antigen (PSMA) imaging by positron emission tomography (PET) has emerged as a promising tool for staging of prostate cancer and restaging of disease in recurrence or biochemical failure after definitive treatment of prostate cancer. Ga-68 PSMA PET produces high target-to-background images of prostate cancer and its metastases which are reflective of the significant overexpression of PSMA in these cells and greatly facilitates tumour detection. However, relatively little is known about the PSMA expression of benign neoplasms and non-prostate epithelial malignancies. This is a case report of PSMA uptake in an adrenal adenoma incidentally discovered on PET performed for restaging of biochemically suspected prostate cancer recurrence. With the increasing use of PSMA PET in the management of prostate cancer - and the not infrequent occurrence of adrenal adenomas - the appearance of low- to moderate-grade PSMA uptake in adrenal adenomas should be one with which reporting clinicians are familiar.

  11. A very rare bilateral adrenal tumor.

    PubMed

    Toniato, Antonio; Boschin, Isabella Merante; Pelizzo, Maria Rosa

    2014-04-01

    We report a case of very rare adrenal tumor. A 54-year-old patient was classified as affected by bilateral adrenal incidentaloma that surprisingly, on histology resulted solitary fibrous tumors. Solitary fibrous tumor (SFT) is an uncommon mesenchymal neoplasm. Only five cases of localization of SFT in adrenal gland are reported in the literature, while the frequency of retroperitoneum localization is more frequent, about 30 cases. Immunohistochemically, SFT can be positive for CD34 antigen, vimentin, CD99, and bcl-2 and usually negative for cytokeratins, chromogranin A, NSE, neurofilaments, synoptophysin, and S-100. Surgical excision remains the main treatment in fact the recurrence is locoregional and correlated with positive margins due to incomplete excision, while distant metastases are correlated with atypical or malignant features.

  12. Principles and management of adrenal cancer

    SciTech Connect

    Javadpour, N.

    1987-01-01

    This book provides information on adrenal diseases of latest developments and guides the clinicians in the care of their patients. The book is divided into two parts. The first section gives an overview of the embryology, anatomy, physiology, markers, pathology, imaging and the current progress in the field. The second edition covers specific diseases of the adrenal cortex and medulla. The increasingly significant roles played by steroids, catecholamines, blockers, computed tomography and magnetic resonance are elucidated and discussed. The contents include: Overview of progress; current problems, and perspectives - embryology anatomy, physiology, and biologic markers; pathology; advances in diagnosis; imaging techniques; adrenal disorders in childhood; primary aldosteronism; Cushing's syndrome; carcinoma; pheochromocytoma; neuroblastoma; metastatic disease; surgical management; and subject index.

  13. Spontaneous Idiopathic Unilateral Adrenal Haemorrhage (SIAH).

    PubMed

    Naqvi, Syed Ali; Zaman, Shamas; Ahmed, Irfan

    2015-04-01

    Spontaneous Idiopathic Adrenal Haemorrhage (SIAH) is an unusual surgical emergency which can present with life threatening massive retroperitoneal bleeding. Most of the cases reported in the literature are associated with use of anticoagulation or underlying adrenal pathology such as tumors or cysts. Since this clinical entity is uncommon and clinical presentation is very indistinct, the diagnosis can be easily missed and can be challenging for the treating physicians. Nevertheless a raised clinical suspicion coupled with advances in radiological imaging have considerably improved the detection of SIAH in recent times. We report an unusual case of a 20 years old healthy female student who presented to our hospital with sudden onset of abdominal pain and shock. She was diagnosed as a case of massive spontaneous idiopathic unilateral adrenal haemorrhage, unaccompanied by any hematologic disorder, trauma or underlying pathology. Although patient was hemodynamically unstable at presentation, she was resuscitated promptly, investigated appropriately, hence recovered uneventfully with conservative management alone.

  14. Adrenal glands in patients with cogenital renal anomalies: CT appearance

    SciTech Connect

    Kenney, P.J.; Robbins, G.L.; Ellis, D.A.; Spirt, B.A.

    1985-04-01

    The CT appearance of the adrenal glands was investigated in 30 patients with congenital renal anomalies. The ipsilateral adrenal was clearly identified in 83% of these patients; in all of them, the adrenal was a paraspinal disk-shaped organ, which appeared linear on CT. Conversely, the adrenals retained their normal shape in a control group of 20 patients with acquired renal atrophy or prior simple nephrectomy.

  15. Localization of metastatic adrenal cortical carcinoma with Ga-67

    SciTech Connect

    Ward, F.T.; Anderson, J.H.; Jelinek, J.; Anderson, D.W. )

    1991-02-01

    Data are limited on the localization of Ga-67 in primary or metastatic adrenal cortical carcinoma. We report the localization of Ga-67 to pathologically confirmed adrenal cortical carcinoma metastatic to the lung. A review of the literature revealed four patients have previously been reported to have metastatic adrenal cortical carcinoma detected on Ga-67 scan. Gallium imaging may be useful in the evaluation of patients with adrenal cortical carcinoma. SPECT imaging should further improve lesion resolution and localization.

  16. Ovarian adrenal interactions during the menopausal transition

    PubMed Central

    Lasley, B. L.; Crawford, S. L.; Mcconnell, D. S.

    2015-01-01

    Observations over the past decade using longitudinal data reveal a gender-specific shift in adrenal steroid production. This shift is represented by an increase in the circulating concentrations of delta 5 steroids in 85% of all women and is initiated only after the menopausal transition has begun. While the associated rise in the major adrenal androgen, dehydroepiandrosterone sulfate (DHEAS), is modest, the parallel rises in dehydroepiandrosteone (DHEA) and androstenediol (Adiol) are much more robust. These increases in circulating steroid concentrations are qualitatively similar on average between ethnicities but quantitatively different between individual women. Both circulating testosterone (T) and androstenedione (Adione) also rise concomitantly but modestly by comparison. This phenomenon presents a new and provocative aspect to the endocrine foundations of the menopausal transition and may provide important clues to understanding the fundamentals of mid-aged women's healthy aging, particularly an explanation for the wide diversity in phenotypes observed during the MT as well as their different responses to hormone replacement therapies. Experimental studies using the nonhuman primate animal model show an acute adrenal response to human chorionic gonadotropin (hCG) challenge as well as the presence of luteinizing hormone receptors (LHR) in their adrenal cortices. These experimental results support the concept that LHRs are recruited to the adrenal cortices of mid-aged women that subsequently function to respond to increasing circulating LH to shunt pregnenolone metabolites towards the delta 5 pathway. Future investigations are required to determine the relationship of these changes in adrenal function to symptoms and health outcomes of mid-aged women. PMID:24346252

  17. A success story in congenital adrenal hyperplasia.

    PubMed

    Kriplani, Alka; Lunkad, Amol; Agarwal, Nutan; Kulshreshtha, Bindu; Ariachery, C Aminni

    2012-12-01

    Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by enzyme defects in adrenal steroidogenic pathways. CAH due to 21-hydroxylase deficiency accounts for 95 % of cases. This case was diagnosed to have simple virilizing type of CAH and started on dexamethasone, and underwent genitoplasty and clitoroplasty at 25 years of age, then was married 3 years after surgery and conceived spontaneously 2 years after marriage, to deliver a healthy male baby. Thus, proper diagnosis and treatment with steroids and genitoplasty can give females with CAH a normal sexual, normal menstrual, and reproductive function.

  18. Diagnosis and Management of Hereditary Adrenal Cancer.

    PubMed

    Angelousi, Anna; Zilbermint, Mihail; Berthon, Annabel; Espiard, Stéphanie; Stratakis, Constantine A

    2016-01-01

    Benign adrenocortical tumours (ACT) are relatively frequent lesions; on the contrary, adrenocortical carcinoma (ACC) is a rare and aggressive malignancy with unfavourable prognosis. Recent advances in the molecular understanding of adrenal cancer offer promise for better therapies in the future. Many of these advances stem from the molecular elucidation of genetic conditions predisposing to the development of ACC. Six main clinical syndromes have been described to be associated with hereditary adrenal cancer. In these conditions, genetic counselling plays an important role for the early detection and follow-up of the patients and the affected family members. PMID:27075352

  19. Noncholinergic control of adrenal catecholamine secretion.

    PubMed Central

    Livett, B G; Marley, P D

    1993-01-01

    It has been known for over 70 years that adrenal catecholamine secretion can be modulated or elicited by noncholinergic neurotransmitters and hormones. However, our understanding of the cellular mechanisms by which these agents produce their effects and the physiological conditions under which they act are not well characterised. Here we briefly review the mechanisms by which one such agent (the neuropeptide substance P) modulates the cholinergic secretory response of adrenal chromaffin cells, and another agent (angiotensin II) elicits catecholamine secretion independently of the cholinergic innervation. PMID:7507911

  20. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. PMID:27241964

  1. Brain serotonin and pituitary-adrenal functions

    NASA Technical Reports Server (NTRS)

    Vernikos-Danellis, J.; Berger, P.; Barchas, J. D.

    1973-01-01

    It had been concluded by Scapagnini et al. (1971) that brain serotonin (5-HT) was involved in the regulation of the diurnal rhythm of the pituitary-adrenal system but not in the stress response. A study was conducted to investigate these findings further by evaluating the effects of altering brain 5-HT levels on the daily fluctuation of plasma corticosterone and on the response of the pituitary-adrenal system to a stressful or noxious stimulus in the rat. In a number of experiments brain 5-HT synthesis was inhibited with parachlorophenylalanine. In other tests it was tried to raise the level of brain 5-HT with precursors.

  2. Adrenal pseudotumors on CT due to dilated portosystemic veins

    SciTech Connect

    Mitty, H.M.; Cohen, B.A.; Sprayregen, S.; Schwartz, K.

    1983-10-01

    The adrenal and periadrenal venous systems are part of the portosystemic collateral pathways that may enlarge in portal hypertension. The cross-sectional image of the resulting enlarged venous channels may simulate an adrenal msss. Three examples of such computed tomographic (CT) scans are presented with selective venographic correlation. Patients with portal hypertension and suspected adrenal pathology may require enhanced or dynamic CT scans.

  3. Ultrasonographic appearance of adrenal glands in healthy and sick cats.

    PubMed

    Combes, Anaïs; Pey, Pascaline; Paepe, Dominique; Rosenberg, Dan; Daminet, Sylvie; Putcuyps, Ingrid; Bedu, Anne-Sophie; Duchateau, Luc; de Fornel-Thibaud, Pauline; Benchekroun, Ghita; Saunders, Jimmy H

    2013-06-01

    The first part of the study aimed to describe prospectively the ultrasonographic features of the adrenal glands in 94 healthy cats and 51 chronically sick cats. It confirmed the feasibility of ultrasonography of adrenal glands in healthy and chronically sick cats, which were not statistically different. The typical hypoechoic appearance of the gland surrounded by hyperechoic fat made it recognisable. A sagittal plane of the gland, not in line with the aorta, may be necessary to obtain the largest adrenal measurements. The reference intervals of adrenal measurements were inferred from the values obtained in the healthy and chronically sick cats (mean ± 0.96 SD): adrenal length was 8.9-12.5 mm; cranial height was 3.0-4.8 mm; caudal height was 3.0-4.5 mm. The second part of the study consisted of a retrospective analysis of the ultrasonographic examination of the adrenal glands in cats with adrenal diseases (six had hyperaldosteronism and four had pituitary-dependent hyperadrenocorticism) and a descriptive comparison with the reference features obtained in the control groups from the prospective study. Cats with hyperaldosteronism presented with unilateral severely enlarged adrenal glands. However, a normal contralateral gland did not preclude a contralateral infiltration in benign or malignant adrenal neoplasms. The ultrasonographic appearance of the adrenal glands could not differentiate benign and malignant lesions. The ultrasonographic appearance of pituitary-dependent hyperadrenocorticism was mainly a symmetrical adrenal enlargement; however, a substantial number of cases were within the reference intervals of adrenal size.

  4. Biopsy of the right adrenal gland by the transhepatic approach

    SciTech Connect

    Price, R.B.; Bernardino, M.E.; Berkman, W.A.; Sones, P.J. Jr.; Torres, W.E.

    1983-08-01

    A transhepatic computed-tomographic-guided biopsy of a right adrenal mass is described. This method is simpler to perform than the usual posterior biopsy carried out with the patient prone and is less likely to cause a complicating pneumothorax. In seven of eight patients with right adrenal masses, adrenal tissue was obtained and an accurate diagnosis was possible. No complications resulted.

  5. Imaging of an adrenal cortical carcinoma and its skeletal metastasis

    SciTech Connect

    Drane, W.E.; Graham, M.M.; Nelp, W.B.

    1983-08-01

    Though the typical scintigraphic appearance in adrenal cortical carcinoma is bilateral nonvisualization of the adrenal glands, a case with simultaneous visualization of both an adrenal cortical carcinoma and its skeletal metastasis using 6-..beta..-(/sup 131/I)iodomethyl-19-norcholesterol is reported.

  6. Imaging of an adrenal cortical carcinoma and its skeletal metastasis

    SciTech Connect

    Drane, W.E.; Graham, M.M.; Nelp, W.B.

    1983-08-01

    Though the typical scintigraphic appearance in adrenal cortical carcinoma is bilateral nonvisualization of the adrenal glands, we report a case with simultaneous visualization of both an adrenal cortical carcinoma and its skeletal metastasis using 6-beta-(/sup 131/I)iodomethyl-19-norcholesterol.

  7. Retroperitoneal foregut duplication cyst presenting as an adrenal mass.

    PubMed

    Terry, N Elizabeth; Senkowski, Christopher K; Check, William; Brower, Steven T

    2007-01-01

    A 75 year-old woman presented to the authors' institution with abdominal pain and early satiety. An adrenal mass was found on CT scanning. Laparoscopic adrenalectomy was performed, and the patient was found to have a retroperitoneal bronchogenic cyst adherent to the adrenal gland. The workup of an adrenal mass is discussed as well as the pathophysiology of bronchogenic cysts.

  8. Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families

    PubMed Central

    Razavi, Zahra; Taghdiri, Mohammad-Mehdi; Eghbalian, Fatemeh; Bazzazi, Nooshin

    2010-01-01

    Background Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. Case(s) Presentation We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them. Conclusion The importance of this report is dental involvement (loss of permanent teeth) in Allgrove syndrome that has not been reported in literature. PMID:23056690

  9. Hospital Admission Patterns in Children with CAH: Admission Rates and Adrenal Crises Decline with Age

    PubMed Central

    Rushworth, R. Louise; Falhammar, Henrik; Munns, Craig F.; Maguire, Ann M.; Torpy, David J.

    2016-01-01

    Objective. To examine patterns of hospitalisation for acute medical conditions in children with congenital adrenal hyperplasia (CAH). Design. A retrospective study of hospitalisation using administrative data. Setting. All hospitals in NSW, Australia. Patients. All patients admitted with CAH and a random sample of admissions in patients aged 0 to 18 years without adrenal insufficiency (AI). Main Outcome Measures. Admissions and comorbidities by age and sex. Results. Of 573 admissions for medical problems in CAH children, 286 (49.9%) were in males, and 236 (41.2%) had a principal diagnosis of CAH or had an adrenal crisis (AC). 37 (6.5%) ACs were recorded. An infection was found in 43.5% (n = 249) of the CAH patient admissions and 51.7% (n = 1613) of the non-AI group, p < 0.001. Children aged up to one year had the highest number of admissions (n = 149) and six ACs (four in males). There were 21 ACs recorded for children aged 1–5 years. Older CAH children had fewer admissions and fewer ACs. No in-hospital deaths were recorded. Conclusions. Admission for medical problems in CAH children declines with age. An AC was recorded in 6.5% of the admissions, with the majority of ACs occurring in the 1 to 5 years age group and there were no deaths. PMID:26880914

  10. Insufficiency fractures of the tibial plateau

    SciTech Connect

    Manco, L.G.; Schneider, R.; Pavlov, H.

    1983-06-01

    An insufficiency fracture of the tibial plateau may be the cause of knee pain in patients with osteoporosis. The diagnosis is usually not suspected until a bone scan is done, as initial radiographs are often negative or inconclusive and clinical findings are nonspecific and may simulate osteoarthritis or spontaneous osteonecrosis. In five of 165 patients referred for bone scans due to nontraumatic knee pain, a characteristic pattern of intense augmented uptake of radionuclide confined to the tibial plateau led to a presumptive diagnosis of insufficiency fracture, later confirmed on radiographs.

  11. Functioning adrenal myelolipoma: A rare cause of hypertension

    PubMed Central

    Jakka, Nagendar; Venkateshwarlu, J.; Satyavani, Naga; Neelaveni, K.; Ramesh, Jayanthy

    2013-01-01

    Co-occurrence of adrenal incidentaloma with hypertension calls for evaluation of endocrine causes including pheochromocytoma, Cushing's disease, and primary aldosteronism. We are reporting 40-years-old man who presented with hypertension and adrenal mass. He had elevated metanephrines, histology of resected adrenal mass revealed adrenal myelolipoma, and immuno-histochemistry was positive for chromogranin A. Both his blood pressure and urinary metanephrines returned to normal after surgery. The association of hypertension and adrenal myelolipoma may not be entirely coincidental, as it may be associated with secreting catecholamine. Literature on such an uncommon association is reviewed briefly as well. PMID:24251175

  12. Pancreatic enzyme replacement therapy during pancreatic insufficiency.

    PubMed

    Berry, Amy J

    2014-06-01

    Pancreatic stimulation and therefore digestion is a tightly controlled and hormonally mediated process. Any alterations affecting any of the systematic steps for successful digestion and absorption to occur will impair appropriate pancreatic enzymatic secretion, entry into the bowel lumen, functionality once inside the lumen, and thus appropriate mixing with foods and nutrients. Many causes of pancreatic insufficiency may require the initiation of pancreatic enzyme therapy, including but not limited to cystic fibrosis, pancreatic cancer, acute and chronic pancreatitis, and pancreatic surgery. This purpose of this article is to help clarify the conditions that cause pancreatic insufficiency, how to determine if the patient is malabsorbing, and the best use of pancreatic enzyme replacement therapy for treatment in these conditions. The first step in determining if pancreatic enzyme therapy is appropriate is to determine if the patient is malabsorbing specifically due to pancreatic exocrine insufficiency. An overview of the methods used to determine pancreatic insufficiency is provided, as well as appropriate treatment methods. Recent Food and Drug Administration regulations require a more thorough process, including randomized controlled trials to prove the safety and efficacy of pancreatic enzymes, to approve them for use. The studies used to verify efficacy also are examined. Last, dosing guidelines and some unconventional ways to administer pancreatic enzymes, such as during enteral feedings, are reviewed.

  13. Genetics of primary ovarian insufficiency: a review.

    PubMed

    Fortuño, Cristina; Labarta, Elena

    2014-12-01

    Primary ovarian insufficiency is one of the main causes of female infertility owing to an abnormal ovarian reserve. Its relevance has increased in more recent years due to the fact that age of motherhood is being delayed in developed countries, with the risk of having either primary ovarian insufficiency or less chances of pregnancy when women consider the option of having their first baby. Several exogenous factors can lead to this event, such us viral infections, metabolomic dysfunction, autoimmune diseases, and environmental or iatrogenic factors, although in most cases the mechanism that leads to the disorder is unknown. Genetic factors represent the most commonly identified cause and the impact of sex chromosome abnormalities (e.g., Turner syndrome or X structural abnormalities), autosomal and X-linked mutations on the genesis of primary ovarian insufficiency has also been well described. Yet in most cases, the genetic origin remains unknown and there are multiple candidate genes. This review aims to collect all the genetic abnormalities and genes associated with syndromic and non syndromic primary ovarian insufficiency that have been published in the literature to date using the candidate-gene approach and a genome-wide analysis.

  14. Adrenal gland denervation and diving in ducks.

    PubMed

    Mangalam, H J; Jones, D R; Lacombe, A M

    1987-06-01

    The extreme elevation in plasma levels of free norepinephrine (NE) and free epinephrine (EP), which occurs during forced diving of ducks (Anas platyrhynchos), was studied before and after denervation of the adrenal glands. In intact animals both NE and EP concentration increased by up to two orders of magnitude in a 4-min dive but by a significantly lesser amount if the duck breathed O2 before the dive. Denervating the adrenal glands reduced the amounts of both catecholamines (CA) released during dives, plasma EP decreased to 10%, and NE to 50% of values obtained before denervation. Breathing O2 before a dive virtually eliminated CA release in denervates, indicating that hypoxia was the important non-neural releasing agent. Hypoxia was also the most important neural releasing agent compared with hypercapnia, acidosis, or hypoglycemia. Adrenal denervation did not cause significant changes in heart rate, blood pressure, arterial blood gas tensions, pH, or plasma glucose during dives, although denervation caused increased variation in some of these variables. In ducks CA release in dives is largely due to decreasing arterial O2 partial pressure, and full expression of the response is dependent on intact innervation of the adrenal gland. PMID:3591985

  15. Genetics Home Reference: primary macronodular adrenal hyperplasia

    MedlinePlus

    ... germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma. J Clin Endocrinol Metab. 2015 Jan;100(1):E119-28. doi: 10.1210/jc.2014-2648. Citation on PubMed or Free article on PubMed Central Faucz FR, Zilbermint M, Lodish ...

  16. Imaging features of benign adrenal cysts.

    PubMed

    Sanal, Hatice Tuba; Kocaoglu, Murat; Yildirim, Duzgun; Bulakbasi, Nail; Guvenc, Inanc; Tayfun, Cem; Ucoz, Taner

    2006-12-01

    Benign adrenal gland cysts (BACs) are rare lesions with a variable histological spectrum and may mimic not only each other but also malignant ones. We aimed to review imaging features of BACs which can be helpful in distinguishing each entity and determining the subsequent appropriate management. PMID:16962278

  17. Adrenal Cushing's syndrome may resemble eating disorders.

    PubMed

    Hatakeyama, Makiko; Nakagami, Taku; Yasui-Furukori, Norio

    2014-01-01

    We encountered a patient who presented extreme weight loss and received an eating disorder diagnosis that was later identified as adrenal Cushing's syndrome. A 32-year-old woman with a 2-year history of an eating disorder was admitted to our psychiatric ward due to dehydration, malnutrition and low weight. Her height and body weight were 152.1 cm and 29.8 kg, respectively (body mass index: 12.8). Her other symptoms included a depressed mood, decreased interest, retardation and suicidal ideation. Standard medical cares were prescribed to treat the depressive symptoms and eating disorder, but the depressive episode and low body weight of the patient persisted. Computed tomography of the abdomen revealed an unexpected left adrenal gland tumor. Cushing's syndrome was diagnosed based on several endocrinological examinations. After an enucleation of the left adrenal gland tumor, the patient began eating, and her body weight increased gradually. Her body weight increased to 42.0-47.0 kg (body mass index: 18.2-20.3). Her mental and physical conditions had stabilized. This case suggests that adrenal Cushing's syndrome may resemble eating disorders.

  18. Adrenal metabolism of mitotane and related compounds

    SciTech Connect

    Djanegara, T.K.S.

    1989-01-01

    Mitotane (o,p{prime}-DDD; 1-(2-chlorophenyl)-1-(4-chlorophenyl)-2,2-dichloroethane) has been used in the treatment of Cushing's syndrome due to adrenal hyperfunction and it the drug of choice for adrenocortical carcinoma. The object of this investigation is to study the biotransformation of o,p{prime}-DDD and p,p{prime}-DDD in dogs and bovine adrenal cortex to explain its selective toxicity and mechanism of action. The in vitro biotransformation of {sup 14}C-labeled o,p{prime}-DDD and p,p{prime}-DDD by dog and bovine adrenal cortex as studied. Of the cortex subcellular fractions, the cytosol fraction was found to be the most active in metabolizing the substrates, followed by the mitochondrial fraction. This metabolism including that in cytosolic fractions, did not take place with boiled enzyme preparations and required an NADPH generating system. This study has been directed towards establishing the metabolic activation mechanism which may account for the adrenocorticolytic effect of mitotane in contrast to detoxication by the liver. HPLC and TLC metabolic profiles have been generated from incubations of bovine and dog adrenal cortex homogenates and their subfractions for {sup 14}C-labeled p,p{prime}-DDD, o,p{prime}-DDD and its monochloroethylene derivative, o,p{prime}-DDMU.

  19. Haemorrhagic adrenal pseudocyst: a case report.

    PubMed

    Jain, P; Shukla, N K; Das, S K; Kapila, K; Kapur, M

    1988-01-01

    A case of a non-functioning adrenal pseudocyst is reported herein. The key role of sonography and abdominal CT in the diagnosis of this rare retroperitoneal cystic lesion is highlighted. A possible etiological relationship with the trauma of parturition is proposed in our patient.

  20. Adrenal Nodular Hyperplasia in Hereditary Leiomyomatosis and Renal Cell Cancer

    PubMed Central

    Shuch, Brian; Ricketts, Christopher J.; Vocke, Cathy D.; Valera, Vladimir A.; Chen, Clara C.; Gautam, Rabi; Gupta, Gopal N.; Macias, Gabriela S. Gomez; Merino, Maria J.; Bratslavsky, Gennady; Linehan, W Marston

    2015-01-01

    Purpose Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is characterized by cutaneous leiomyomas, uterine fibroids, and aggressive papillary renal cell carcinoma (RCC). A number of our HLRCC patients were found to have atypical adrenal nodules and which were further evaluated to determine if these adrenal nodules were associated with HLRCC. Methods HLRCC patients underwent a comprehensive clinical and genetic evaluation. Clinical presentation, anatomic and functional imaging, endocrine evaluation, pathologic examination and the results from germline mutation testing were reviewed. Results Twenty of 255 HLRCC patients (7.8%) were found to have primary adrenal lesions. Among these, three were found to have bilateral adrenal lesions and four were found to have multiple nodules. Two patients had ACTH-independent hypercortisolism. A total of 27 adrenal lesions were evaluated. The imaging characteristics of five (18.5%) of these lesions were not consistent with adenoma by non-contrast CT criteria. PET imaging was positive in 7 of 10 cases (70%). Twelve nodules were surgically resected from ten adrenal glands. Pathologic examination revealed macronodular adrenal hyperplasia in all specimens. Conclusions Unilateral and bilateral adrenal nodular hyperplasia was detected in a subset of patients affected with HLRCC. A functional endocrine evaluation is recommended when an adrenal lesion is discovered. Imaging frequently demonstrates lesions that are not typical of adenomas and PET imaging may be positive. To date, no patient has been found to have adrenal malignancy and active surveillance of HLRCC adrenal nodules appears justified. PMID:22982371

  1. Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.

    PubMed

    Zhang, Zhe; Feng, Ye; Ye, Dan; Li, Cheng-jiang; Dong, Feng-qin; Tong, Ying

    2015-11-01

    Congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 (DAX-1) mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation (1268delA) of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype. PMID:26537215

  2. Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene*

    PubMed Central

    ZHANG, Zhe; FENG, Ye; YE, Dan; LI, Cheng-jiang; DONG, Feng-qin; TONG, Ying

    2015-01-01

    Congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 (DAX-1) mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation (1268delA) of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype. PMID:26537215

  3. Adrenal myelolipoma: Controversies in its management

    PubMed Central

    Shenoy, Vasanth G.; Thota, Anuroop; Shankar, Ravi; Desai, Mallikarjun G.

    2015-01-01

    Adrenal myelolipomas (AMLs) are rare, benign neoplasms of the adrenal gland with varied clinical presentations. The rarity of these tumors precludes any case-controlled or randomized study into their management. The available literature is limited to case reports and short series from referral centers. This review is an effort to put the available literature into perspective such that clinical decision making can be done with some clarity. The PubMed and Cochrane databases were searched with key words Adrenal Myelolipoma, Adrenal Incidentaloma (AI) and Adrenal Collision Tumor (ACT). From over 1300 search results, 547 relevant publications dating from 1954 to 2014 were reviewed. Details of about 1231 AMLs in the indexed literature were analyzed. Increasing usage of imaging studies has significantly increased the discovery of AMLs. Although AMLs are benign tumors, those measuring larger than 6 cm are prone to rupture and hemorrhage. Thorough endocrine work-up may benefit a selected group of patients, especially those who are hypertensive, diabetic/pre-diabetic, young patients (<50 years) and those with bilateral AML. Regular observation is needed for AML patients who are being treated non-operatively, as many of them may require surgery during follow-up. Although the AACE/AAES guidelines for AI (2009) exclude AML from mandatory metabolic work-up for a newly discovered AI, we feel that a significant number of patients with AML would benefit from metabolic work-up. In the literature, endocrine dysfunction in AML is 7% as compared with 11% in AI. Endocrine dysfunction in AML is probably underdiagnosed. PMID:25878407

  4. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

    SciTech Connect

    Yanase, Toshihiko; Takayanagi, Ryoichi; Oba, Koichi

    1996-02-01

    Congenital adrenal hypoplasia, an X-linked disorder, is characterized by primary adrenal insufficiency and frequent association with hypogonadotropic hypogonadism. The X-chromosome gene DAX-1 has been most recently identified and shown to be responsible for this disorder. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism by using PCR amplification of genomic DNA and its complete exonic sequencing. In a family containing several affected individuals, the proband male patient had a stop codon (TGA) in place of tryptophan (TGG) at amino acid position 171. As expected, his mother was a heterozygous carrier for the mutation, whereas his father and unaffected brother did not carry this mutation. In another male patient with noncontributory family history, sequencing revealed a 1-bp (T) deletion at amino acid position 280, leading to a frame shift and, subsequently a premature stop codon at amino acid position 371. The presence of this mutation in the patients` genome was further confirmed by digestion of genomic PCR product with MspI created by this mutation. Family studies using MspI digestion of genomic PCR products revealed that neither parent of this individual carried the mutation. These results clearly indicate that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 gene. 31 refs., 4 figs., 2 tabs.

  5. Use of plasma metanephrine to aid adrenal venous sampling in combined aldosterone and cortisol over-secretion

    PubMed Central

    Goupil, Rémi; Wolley, Martin; Ungerer, Jacobus; McWhinney, Brett; Mukai, Kuniaki; Naruse, Mitsuhide; Gordon, Richard D

    2015-01-01

    Summary In patients with primary aldosteronism (PA) undergoing adrenal venous sampling (AVS), cortisol levels are measured to assess lateralization of aldosterone overproduction. Concomitant adrenal autonomous cortisol and aldosterone secretion therefore have the potential to confound AVS results. We describe a case where metanephrine was measured during AVS to successfully circumvent this problem. A 55-year-old hypertensive male had raised plasma aldosterone/renin ratios and PA confirmed by fludrocortisone suppression testing. Failure of plasma cortisol to suppress overnight following dexamethasone and persistently suppressed corticotrophin were consistent with adrenal hypercortisolism. On AVS, comparison of adrenal and peripheral A/F ratios (left 5.7 vs peripheral 1.0; right 1.7 vs peripheral 1.1) suggested bilateral aldosterone production, with the left gland dominant but without contralateral suppression. However, using aldosterone/metanephrine ratios (left 9.7 vs peripheral 2.4; right 1.3 vs peripheral 2.5), aldosterone production lateralized to the left with good contralateral suppression. The patient underwent left laparoscopic adrenalectomy with peri-operative glucocorticoid supplementation to prevent adrenal insufficiency. Pathological examination revealed adrenal cortical adenomas producing both cortisol and aldosterone within a background of aldosterone-producing cell clusters. Hypertension improved and cured of PA and hypercortisolism were confirmed by negative post-operative fludrocortisone suppression and overnight 1 mg dexamethasone suppression testing. Routine dexamethasone suppression testing in patients with PA permits detection of concurrent hypercortisolism which can confound AVS results and cause unilateral PA to be misdiagnosed as bilateral with patients thereby denied potentially curative surgical treatment. In such patients, measurement of plasma metanephrine during AVS may overcome this issue. Learning points Simultaneous autonomous

  6. Renin knockout rat: control of adrenal aldosterone and corticosterone synthesis in vitro and adrenal gene expression

    PubMed Central

    Gehrand, Ashley; Bruder, Eric D.; Hoffman, Matthew J.; Engeland, William C.; Moreno, Carol

    2014-01-01

    The classic renin-angiotensin system is partly responsible for controlling aldosterone secretion from the adrenal cortex via the peptide angiotensin II (ANG II). In addition, there is a local adrenocortical renin-angiotensin system that may be involved in the control of aldosterone synthesis in the zona glomerulosa (ZG). To characterize the long-term control of adrenal steroidogenesis, we utilized adrenal glands from renin knockout (KO) rats and compared steroidogenesis in vitro and steroidogenic enzyme expression to wild-type (WT) controls (Dahl S rat). Adrenal capsules (ZG; aldosterone production) and subcapsules [zona reticularis/fasciculata (ZFR); corticosterone production] were separately dispersed and studied in vitro. Plasma renin activity and ANG II concentrations were extremely low in the KO rats. Basal and cAMP-stimulated aldosterone production was significantly reduced in renin KO ZG cells, whereas corticosterone production was not different between WT and KO ZFR cells. As expected, adrenal renin mRNA expression was lower in the renin KO compared with the WT rat. Real-time PCR and immunohistochemical analysis showed a significant decrease in P450aldo (Cyp11b2) mRNA and protein expression in the ZG from the renin KO rat. The reduction in aldosterone synthesis in the ZG of the renin KO adrenal seems to be accounted for by a specific decrease in P450aldo and may be due to the absence of chronic stimulation of the ZG by circulating ANG II or to a reduction in locally released ANG II within the adrenal gland. PMID:25394830

  7. Giant adrenal pseudocyst harbouring adrenocortical cancer

    PubMed Central

    Wilkinson, Michael; Fanning, Deirdre Mary; Moloney, James; Flood, Hugh

    2011-01-01

    The authors report a very rare case of adreno-cortical carcinoma arising in a giant adrenal pseudocyst. A 64-year-old woman presented to the emergency department with a 6 week history of progressively worsening severe left abdominal pain, anorexia, anergia and constipation. On examination, she was cachectic with tenderness over the left abdomen and flank. Medical history was significant for gastritis and anaemia. During her investigation, a well-defined para-renal 12×6 centimetre multi-loculated cyst, of uncertain origin was identified on CT. Ultrasound-guided biopsy was not diagnostic. MRI showed the cyst to be likely adrenal in origin. Serum and urinary catecholamines were unremarkable. At laparotomy an unresectable large, tense, fixed, cystic mass was seen to occupy the left side of the abdomen. The cyst was de-roofed. Pathology showed a high-grade poorly differentiated adreno-cortical carcinoma with a pseudo-capsule. She died 2 months postoperatively. PMID:22679267

  8. Bilateral adrenal gland haemorrhage: an unusual cause

    PubMed Central

    Shenoy, Vasant; Malabu, Usman; Cameron, Donald; Sangla, Kunwarjit

    2014-01-01

    Summary Our patient had drainage of a large amoebic liver abscess. This got complicated by a severe degree of hypotension, which required aggressive fluid resuscitation and hydrocortisone support. Computerised tomography (CT) of the abdomen revealed bilateral adrenal gland haemorrhage (BAH) resulting in primary adrenal gland failure, which was the cause for hypotension. Patient was on long-term warfarin for provoked deep vein thrombosis of lower limb, which was discontinued before the procedure. Thrombophilia profile indicated the presence of lupus anticoagulant factor with prolonged activated partial thromboplastin time (aPTT). Patient was discharged on lifelong warfarin. This case emphasises the need for strong clinical suspicion for diagnosing BAH, rare but life-threatening condition, and its association with amoebic liver abscess and anti-phospholipid antibody syndrome (APLS). Learning points Recognition of BAH as a rare complication of sepsis.APLS can rarely cause BAH. PMID:25276353

  9. Electrical excitability of cultured adrenal chromaffin cells.

    PubMed Central

    Biales, B; Dichter, M; Tischler, A

    1976-01-01

    1. Adult human and gerbil adrenal medullary cells were maintained in dissociated cell culture and studied by micro-electrode penetration. 2. In the best recordings, chromaffin cell transmembrane potentials exceeded -50mV. 3. Chromaffin cells were capable of generating all-or-nothing over-shooting action potentials, similar to those generated by sympathetic neurones. 4. The action potentials were blocked by tetrodotoxin (TTX, 10(-6)g/ml.) but were not blocked by removal of Ca or by CoCl2 (10 mM). We conclude that the action potentials are probably generated by a Na mechanism. 5. Chromaffin cells are depolarized by the iontophoretic application of acetylcholine (ACh). This depolarization was accompanied by an increased membrane conductance and could trigger action potentials. 6. Action potentials were also found in cells in fresh slices of gerbil adrenal medullae. Images Plate 1 PMID:1034699

  10. Cushing syndrome associated with an adrenal tumour

    PubMed Central

    Vieira, Helena; Brain, Caroline

    2012-01-01

    Cushing syndrome (CS) in children is a rare disorder that is most frequently caused by an adrenal tumour or a pituitary corticotrophin-secreting adenoma. The management is challenging and requires an individualised approach and multidisciplinary care. We present the case of a 23-month-old female child with a history of excessive weight gain, growth failure, hirsutism, acne and behavioural difficulties. Investigations revealed elevated serum midnight cortisol and 24 h urinary free cortisol. Overnight dexamethasone suppression testing showed no suppression of cortisol levels. Abdominal imaging revealed a right-sided suprarenal mass. She underwent right adrenalectomy and the histology showed an adrenal cortical carcinoma. There was clinical improvement with catch-up growth and weight normalisation. Despite being rare in clinical practice, in a child with weight gain, hirsuitism and growth failure the diagnosis must be considered. The overall prognosis of CS in childhood is good, but challenges remain to ensure normal growth and body composition. PMID:22927284

  11. Adrenal Metastasis from Uterine Papillary Serous Carcinoma

    PubMed Central

    Lubana, Sandeep Singh; Singh, Navdeep; Tuli, Sandeep S.; Seligman, Barbara

    2016-01-01

    Patient: Female, 60 Final Diagnosis: UPSC with adrenal metastasis Symptoms: Post menopausal bleeding Medication: — Clinical Procedure: Adrenalectomy Specialty: Oncology Objective: Rare disease Background: Uterine papillary serous carcinoma (UPSC) is a highly malignant form of endometrial cancer with a high propensity for metastases and recurrences even when there is minimal or no myometrial invasion. It usually metastasizes to the pelvis, retroperitoneal lymph nodes, upper abdomen, and peritoneum. However, adrenal metastases from UPSC is extremely rare. Here, we present a case of UPSC with adrenal metastasis that occurred 6 years after the initial diagnosis. Case Report: A 60-year-old woman previously diagnosed with uterine papillary serous carcinoma at an outside facility presented in September of 2006 with postmenopausal bleeding. She underwent comprehensive surgical staging with FIGO (International Federation of Gynecology and Obstetrics) stage 2. Post-operatively, the patient was treated with radiation and chemotherapy. The treatment was completed in April of 2007. The patient had no evidence of disease until July 2009 when she was found to have a mass highly suspicious for malignancy. Subsequently, she underwent right upper lobectomy. The morphology of the carcinoma was consistent with UPSC. She refused chemotherapy due to a previous history of chemotherapy-induced neuropathy. The patient was followed up with regular computed tomography (CT) scans. In October 2012 a new right adrenal nodule was seen on CT, which showed intense metabolic uptake on positron emission tomography (PET)/CT scan. The patient underwent right adrenalectomy. Pathology of the surgical specimen was consistent with UPSC. Conclusions: UPSC is an aggressive variant of endometrial cancer associated with high recurrence rate and poor prognoses. Long-term follow-up is needed because there is a possibility of late metastases, as in this case. PMID:27117594

  12. Renal infarction associated with adrenal pheochromocytoma.

    PubMed

    Thewjitcharoen, Yotsapon; Atikankul, Taywin; Sunthornyothin, Sarat

    2013-09-01

    The coexistence of pheochromocytoma and renal artery stenosis had been reported occasionally from the possible mechanism of catecholoamine-induced vasospasm and extrinsic compression of renal artery in some reported cases. However, renal infarction caused by pheochromocytoma is an uncommon phenomenon. Herein, we report an interesting case of adrenal pheochromocytoma associated with renal artery thrombosis, which should be included in the differential diagnosis of pheochromocytoma patients who present with abdominal pain.

  13. Mineralocorticoid production of adrenal cortical adenomas.

    PubMed

    Gláz, E; Rácz, K; Varga, I; Kiss, R; Tóth, M; Fütö, L

    1993-04-01

    We studied in vitro and in vivo corticosteroid production as well as the presence of symptoms of an increased mineralocorticoid effect in patients with 'silent' adrenal cortical adenomas, and compared these results to those found in patients with classical mineralocorticoid excess syndromes. We found that under in vitro conditions, cells from 'silent' adrenal cortical adenomas (n = 19) produced substantial amounts of both zona glomerulosa and fasciculata steroids, although the production of steroids in these cells was lower compared to that in mineralocorticoid-producing adenoma cells (n = 26). Patients with aldosterone-producing and 'silent' adenomas had significantly increased plasma atrial natriuretic peptide levels, which remained non-suppressible after upright posture and furosemide administration. Of the 25 patients with 'silent' adenomas, 11 had low and non-stimulable plasma renin activity (PRA) before but, in most cases, not after adrenal surgery. When compared to those with normal PRA (n = 14), patients with low PRA 'silent' adenomas (n = 11) had higher blood pressure which was significantly reduced after surgery, and a mild hypokalemia before but not after surgery. Although basal plasma concentrations of aldosterone, 18-hydroxy-corticosterone, corticosterone, deoxycorticosterone, 18-hydroxy-DOC, cortisol,11-deoxycortisol and 17-hydroxy-progesterone (17-OH-P) were not increased in either groups of 'silent' adenomas, ACTH stimulation produced a hyperreactive response for all measured steroids, of which an extremely high 17-OH-P seemed to be one of the most intriguing findings. We consider that these observations in 'silent' adrenal cortical adenomas may justify surgical intervention, irrespective of the size and potential malignancy of these adenomas. PMID:8481352

  14. Endoscopic Retroperitoneal Adrenalectomy for Adrenal Metastases

    PubMed Central

    Simutis, Gintaras; Lengvenis, Givi; Beiša, Virgilijus; Strupas, Kęstutis

    2014-01-01

    Objectives. To evaluate whether retroperitoneal approach for adrenalectomy is a safe and effective treatment for adrenal metastases (AM). Methods. From June 2004 to January 2014, nine consecutive patients with AM were treated with endoscopic retroperitoneal adrenalectomy (ERA). A retrospective study was conducted, and clinical data, tumor characteristics, and oncologic outcomes were acquired and analyzed. Results. Renal cancer was the primary site of malignancy in 44.4% of cases. The mean operative time was 132 ± 10.4 min. There were 5 synchronous and 4 metachronous AM. One patient required conversion to transperitoneal laparoscopic procedure. No mortality or perioperative complications were observed. The median overall survival was 11 months (range: 2–42 months). Survival rates of 50% and 25% were identified at 1 and 3 years, respectively. At the end of the study, 4 patients were alive with a mean observed follow-up of 20 months. No patients presented with local tumor relapse or port-site metastases. Conclusions. This study shows that ERA is a safe and effective procedure for resection of AM and advances the surgical treatment of adrenal disease. The use of the retroperitoneal approach for adrenal tumors less than 6 cm can provide very favorable surgical outcomes. PMID:25276132

  15. [Oncocytic tumors of the adrenal gland].

    PubMed

    Capela, Andreia; Martinho, Aurélia; Paixão Duarte, Fernanda; Garcia, Hermano; Rocha Pires, Francisco; Theias Manso, Rita; Aparício, Samuel; Costa, Ana Maria

    2013-01-01

    The oncocytic tumors of the adrenal gland are rare. To date there's only 147 cases published. The authors present a case of a 34 year-old man admitted to the hospital with lumbar pain and fever. At medical examination a mass was found in the left upper quadrant of the abdomen. The hormonal measurements of the adrenal gland were normal and the abdominal angio CT showed a left retroperitoneal lesion measuring 145 x 157 x 128 mm with extensive necrotic and hemorrhagic areas. The patient underwent a complete surgical resection of the lesion. The mass weighted 1495g and the histological exam revealed an oncocytic tumor of the adrenal gland with uncertain potential. Most of the oncocytic tumors are non functioning and must be considered in the differential diagnosis of adrenocortical tumors. The biologic behavior and the prognosis of these tumors are variable and still need a better definition. Due to the rarity of these tumors the authors made a revision on the published bibliography.

  16. Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.

    PubMed

    Domenice, S; Latronico, A C; Brito, V N; Arnhold, I J; Kok, F; Mendonca, B B

    2001-09-01

    Primary adrenal insufficiency is a rare condition in pediatric age, and its association with precocious sexual development is very uncommon. We report a 2-yr-old Brazilian boy with DAX1 gene mutation whose first clinical manifestation was isosexual gonadotropin-independent precocious puberty. He presented with pubic hair, enlarged penis and testes, and advanced bone age. T levels were elevated, whereas basal and GnRH-stimulated LH levels were compatible with a prepubertal pattern. Chronic GnRH agonist therapy did not reduce T levels, supporting the diagnosis of gonadotropin-independent precocious puberty. Testotoxicosis was ruled out after normal sequencing of exon 11 of the LH receptor gene. At age 3 yr he developed clinical and hormonal features of severe primary adrenal insufficiency. The entire coding region of the DAX1 gene was analyzed through direct sequencing. A nucleotide G insertion between nucleotides 430 and 431 in exon 1, resulting in a novel frameshift mutation and a premature stop codon at position 71 of DAX-1, was identified. Surprisingly, steroid replacement therapy induced a clear decrease in testicular size and T levels to the prepubertal range. These findings suggest that chronic excessive ACTH levels resulting from adrenal insufficiency may stimulate Leydig cells and lead to gonadotropin-independent precocious puberty in some boys with DAX1 gene mutations. PMID:11549627

  17. [A Case of Synchronous Malignant Pheochromocytomas in Bilateral Adrenal Glands].

    PubMed

    Usui, Kimitsugu; Hirasawa, Terukazu; Kobayashi, Masataka; Shioi, Kouichi; Kobayashi, Kazuki; Sakai, Naoki; Noguchi, Sumio; Tsuura, Yukio

    2016-06-01

    We present a case of synchronous malignant pheochromocytoma in bilateral adrenal glands. A 73- year-old man presented to our hospital with bilateral adrenal masses incidentally found during abdominal ultrasonography examination for an unrelated issue. The patient had a 30-year history of hypertension and paroxysmal atrial fibrillation. Computed tomography and magnetic resonance imaging showed heterogeneous tumors in bilateral adrenal glands and an enlarged para-aortic lymph node. Hormonal examinations revealed a high value of urinary catecholamines. Metaiodobenzylguanidine (MIBG) scintigraphy showed increased uptake in bilateral adrenal glands and the lymph node. Both adrenal tumors and the node were surgically removed. Pathological examination revealed histologically distinct tissue between the two adrenal tumors. The patient received five cycles of adjuvant chemotherapy, consisting of cyclophosphamide, vincristine, and dacarbazine. The patient has been in remission for 32 months following surgical treatment. PMID:27452493

  18. [A Case of Synchronous Malignant Pheochromocytomas in Bilateral Adrenal Glands].

    PubMed

    Usui, Kimitsugu; Hirasawa, Terukazu; Kobayashi, Masataka; Shioi, Kouichi; Kobayashi, Kazuki; Sakai, Naoki; Noguchi, Sumio; Tsuura, Yukio

    2016-06-01

    We present a case of synchronous malignant pheochromocytoma in bilateral adrenal glands. A 73- year-old man presented to our hospital with bilateral adrenal masses incidentally found during abdominal ultrasonography examination for an unrelated issue. The patient had a 30-year history of hypertension and paroxysmal atrial fibrillation. Computed tomography and magnetic resonance imaging showed heterogeneous tumors in bilateral adrenal glands and an enlarged para-aortic lymph node. Hormonal examinations revealed a high value of urinary catecholamines. Metaiodobenzylguanidine (MIBG) scintigraphy showed increased uptake in bilateral adrenal glands and the lymph node. Both adrenal tumors and the node were surgically removed. Pathological examination revealed histologically distinct tissue between the two adrenal tumors. The patient received five cycles of adjuvant chemotherapy, consisting of cyclophosphamide, vincristine, and dacarbazine. The patient has been in remission for 32 months following surgical treatment.

  19. [Extreme kidney displacement caused by an adrenal pseudocyst].

    PubMed

    Tragl, K H; Obrowsky, L; Swoboda, G; Langthaler, B; Brezina, K; Machacek, E

    1985-03-01

    Renal displacement is very infrequently associated with a space occupying adrenal disease and sometimes imposes major diagnostic problems. The diagnosis of monstrous, retroperitoneal cysts is of particular difficulty. In a 51-year-old female patient the diagnosis and the association of a cystic formation to the adrenal gland could only be made at surgery, despite the steadily increasing renal displacement. The etiology of adrenal cysts, the diagnostic procedures and the possible concurrence of hypertension are discussed.

  20. Genetics of Cleft Palate and Velopharyngeal Insufficiency.

    PubMed

    Sweeney, Walter M; Lanier, Steve T; Purnell, Chad A; Gosain, Arun K

    2015-03-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI. PMID:27617110

  1. Renal insufficiency associated with excessive lead exposure.

    PubMed Central

    Campbell, B C; Beattie, A D; Moore, M R; Goldberg, A; Reid, A G

    1977-01-01

    Water lead concentrations were measured in 970 households throughout Scotland. Blood lead concentrations were measured in 283 people living in houses with water lead levels of over 0-48 mumol/l (100 mug/l). A highly significant correlation was found between lead concentrations in water and blood. Raised blood lead concentrations were associated with renal insufficiency, reflected in raised serum urea concentrations, and with hyperuricaemia, although there was no evidence of clinical disease in any of the affected people. This is further evidence that excessive lead in domestic water supplies has a harmful effect on the community's health. PMID:837171

  2. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.

    2015-01-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI. PMID:27617110

  3. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.

    2015-01-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI.

  4. Isolated adrenal masses in nonsmall-cell bronchogenic carcinoma

    SciTech Connect

    Oliver, T.W. Jr.; Bernardino, M.E.; Miller, J.I.; Mansour, K.; Greene, D.; Davis, W.A.

    1984-10-01

    Computed tomography has become an important diagnostic modality in the preoperative staging of patients with bronchogenic carcinoma. The adrenal glands represent one of the most frequent sites of metastasis. Therefore, an isolated adrenal mass discovered on preoperative thoracoabdominal CT poses a diagnostic problem. Three hundred thirty patients with histologically proved nonsmall-cell bronchogenic carcinoma were evaluated. Thirty-two had adrenal masses without further evidence of disease in the abdomen, Eight of these 32 masses were metastases, 17 were proved adenomas, and 7 did not undergo biopsy. Thus an isolated adrenal mass is more likely benign than metastatic, and biopsy is advocated prior to withholding potentially curative surgery.

  5. [Morphometry in Development of Red Deer's Adrenal Glands].

    PubMed

    Ovcharenko, N D; Gribanova, O G; Bondyreva, L A

    2015-01-01

    Histological structures and morphometric and some histochemical indicators of elk's adrenal gland development as subspecies of red deer in prenatal and postnatal ontogenies stages was studied. It was found that the growth of the fetus adrenal glands weight and the thickness of the structures adrenal glands fragments continue throughout the prenatal period of ontogeny. The cells of androgenic zone with single wandering sympathogoniae are differentiated in the adrenal glands in the second month of development. The androgenic and definite zone and the adrenal medulla are differentiated by the third month of development. At the 4 months, adrenal gland cortex zona glomerulosa and zona fasciculate-reticularis are differentiated; zona reticularis is differentiated only by the seventh month. By the eighth month, the structure of adrenal glands corresponds to the adrenal glands of a newborn. Full structural formation of the adrenal glands takes place in young animals by age 1.5. Obvious structural changes were not found late in the postnatal stages of development.

  6. Triple A syndrome with ophthalmic manifestations in two siblings.

    PubMed

    Babu, Kalpana; Murthy, Krishna R; Babu, Narendra; Ramesh, S

    2007-01-01

    Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by adrenocorticotropic hormone resistant adrenal insufficiency, alacrima, achalasia of the esophageal cardia, progressive neurological degeneration and occasionally autonomic instability. We report the ophthalmic manifestations in 2 siblings from a consanguineous family with this syndrome. A routine ophthalmic examination showed absence of palpebral portion of lacrimal gland, dry eyes and sluggish pupillary reflexes in both eyes of these patients. Both of these patients had achalasia cardia while the boy additionally had increased serum cortisol levels. Topical ocular lubricants were prescribed for both of them and Heller's cardiomyotomy with fundus plication was done for achalasia. These cases would create an awareness of this rare condition in ophthalmology in addition to suggesting its management. PMID:17595484

  7. The chronic cerebrospinal venous insufficiency syndrome.

    PubMed

    Zamboni, P; Galeotti, R

    2010-12-01

    Chronic cerebrospinal venous insufficiency (CCSVI) is a syndrome characterized by stenosies of the internal jugular and/or azygous veins (IJVs-AZ) with opening of collaterals and insufficient drainage proved by reduced cerebral blood flow and increased mean transit time in cerebral MRI perfusional study. The present review is aimed to give a comprehensive overview of the actual status of the art of the diagnosis and treatment of this condition. As far as the origin of venous narrowing is concerned, phlebographic studies of the IJVs and AZ systems demonstrated that venous stenoses were likely to be truncular venous malformations; mostly, they are intraluminal defects such as malformed valve, septa webs. CCSVI condition has been found to be strongly associated with multiple sclerosis (MS), a disabling neurodegenerative and demyelinating disease considered autoimmune in nature. In several epidemiological observations performed at different latitudes on patients with different genetic backgrounds, the prevalence of CCSVI in MS ranges from 56% to 100%. To the contrary, by using venous MR and/or different Doppler protocols, CCSVI was not detected with the same prevalence. Two pilot studies demonstrated the safety and feasibility in Day Surgery of the endovascular treatment of CCSVI by means of balloon angioplasty (PTA). It determines a significant reduction of postoperative venous pressure. Restenosis rate was found out elevated in the IJVs, but negligible in the AZ. However, PTA seems to positively influence clinical and QoL parameters of the associated MS and warrants further randomized control trials.

  8. Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.

    PubMed

    Miyoshi, Yoko; Sakai, Norio; Hamada, Yusuke; Tachibana, Makiko; Hasegawa, Yasuhiro; Kiyohara, Yuki; Yamada, Hiroyuki; Murakami, Mari; Kondou, Hiroki; Kimura-Ohba, Shihoko; Mine, Junji; Sato, Tatsuharu; Kamio, Noriko; Ueda, Hitoshi; Suzuki, Yasuhiro; Shiomi, Masashi; Ohta, Hideaki; Shimozawa, Nobuyuki; Ozono, Keiichi

    2010-01-01

    X-linked adrenoleukodystrophy (X-ALD) is a genetic disease associated with demyelination of the central nervous system, adrenocortical insufficiency and accumulation of very long chain fatty acids. It is a clinically heterogeneous disorder ranging from a severe childhood cerebral form to an asymptomatic form. The incidence in Japan is estimated to be between 1:30,000 and 1:50,000 boys as determined by a nationwide retrospective survey between 1990 and 1999, which found no cases with Addison's form. We reviewed the medical records of eleven Japanese boys with X-ALD from 1990 to 2010 in our institute. Eight patients were detected by neuropsychological abnormalities, whereas a higher prevalence of unrecognized adrenocortical insufficiency (5/11: 45%) was observed than previously recognized. While no neurological abnormalities were demonstrated in two brothers, the elder brother had moderate Addison's disease at diagnosis and the presymptomatic younger brother progressed to Addison's disease six months after the diagnosis of X-ALD. Early detection of impaired adrenal function as well as early identification of neurologically presymptomatic patients by genetic analysis is essential for better prognosis. Addison's form might be overlooked in Japan; therefore, X-ALD should be suspected in patients with adrenocortical insufficiency.

  9. Calcaneal Insufficiency Fracture after Ipsilateral Total Knee Arthroplasty

    PubMed Central

    Jeong, Min; Shin, Sung Jin; Kang, Byoung Youl

    2016-01-01

    Insufficiency fracture of the calcaneus is a rare entity. In the absence of trauma, evaluating a painful ankle in an elderly patient can be difficult and also it might be overlook the insufficiency fracture. We experienced a case of insufficiency calcaneus fracture that occurred after ipsilateral total knee arthroplasty. Here, we report our case with a review of literatures. PMID:26981521

  10. 29 CFR 541.2 - Job titles insufficient.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 29 Labor 3 2010-07-01 2010-07-01 false Job titles insufficient. 541.2 Section 541.2 Labor Regulations Relating to Labor (Continued) WAGE AND HOUR DIVISION, DEPARTMENT OF LABOR REGULATIONS DEFINING AND... General Regulations § 541.2 Job titles insufficient. A job title alone is insufficient to establish...

  11. 29 CFR 541.2 - Job titles insufficient.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 29 Labor 3 2012-07-01 2012-07-01 false Job titles insufficient. 541.2 Section 541.2 Labor Regulations Relating to Labor (Continued) WAGE AND HOUR DIVISION, DEPARTMENT OF LABOR REGULATIONS DEFINING AND... General Regulations § 541.2 Job titles insufficient. A job title alone is insufficient to establish...

  12. 29 CFR 541.2 - Job titles insufficient.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 29 Labor 3 2013-07-01 2013-07-01 false Job titles insufficient. 541.2 Section 541.2 Labor Regulations Relating to Labor (Continued) WAGE AND HOUR DIVISION, DEPARTMENT OF LABOR REGULATIONS DEFINING AND... General Regulations § 541.2 Job titles insufficient. A job title alone is insufficient to establish...

  13. 29 CFR 541.2 - Job titles insufficient.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 29 Labor 3 2014-07-01 2014-07-01 false Job titles insufficient. 541.2 Section 541.2 Labor Regulations Relating to Labor (Continued) WAGE AND HOUR DIVISION, DEPARTMENT OF LABOR REGULATIONS DEFINING AND... General Regulations § 541.2 Job titles insufficient. A job title alone is insufficient to establish...

  14. 29 CFR 541.2 - Job titles insufficient.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 29 Labor 3 2011-07-01 2011-07-01 false Job titles insufficient. 541.2 Section 541.2 Labor Regulations Relating to Labor (Continued) WAGE AND HOUR DIVISION, DEPARTMENT OF LABOR REGULATIONS DEFINING AND... General Regulations § 541.2 Job titles insufficient. A job title alone is insufficient to establish...

  15. [Transcranial electrostimulation in chronic cerebral vascular insufficiency].

    PubMed

    Voropaev, A A; Mochalov, A D

    2006-01-01

    The method of transcranial electrostimulation (TCES) has been used for treatment of 68 patients with chronic cerebral vascular insufficiency, stages I and II. A treatment course included 7 daily procedures. The influence of TCES was evaluated clinically, by EEG, transcranial ultrasonic Doppler study and hemodynamic indices in arteries and veins as well as by expression of trait and state anxiety. All the parameters were compared to those of the control group which was treated using conventional methods. TCES resulted in normalization of cerebral vascular reactivity, a decrease of venous circulation disturbances, positive influence on cerebral blood flow and EEG parameters, that corresponded to global improvement of the patients' state, regress of cephalgic syndrome and reduction of trait and state anxiety. The method is simple and safety and can be recommended for wide application including outpatient setting.

  16. [Transcranial electrostimulation in chronic cerebral vascular insufficiency].

    PubMed

    Voropaev, A A; Mochalov, A D

    2006-01-01

    The method of transcranial electrostimulation (TCES) has been used for treatment of 68 patients with chronic cerebral vascular insufficiency, stages I and II. A treatment course included 7 daily procedures. The influence of TCES was evaluated clinically, by EEG, transcranial ultrasonic Doppler study and hemodynamic indices in arteries and veins as well as by expression of trait and state anxiety. All the parameters were compared to those of the control group which was treated using conventional methods. TCES resulted in normalization of cerebral vascular reactivity, a decrease of venous circulation disturbances, positive influence on cerebral blood flow and EEG parameters, that corresponded to global improvement of the patients' state, regress of cephalgic syndrome and reduction of trait and state anxiety. The method is simple and safety and can be recommended for wide application including outpatient setting. PMID:16768222

  17. Cardiovascular Disease and Primary Ovarian Insufficiency

    PubMed Central

    Wellons, Melissa

    2012-01-01

    Cardiovascular disease (CVD) is the number-one killer of women. Women with primary ovarian insufficiency (POI) may be more burdened by cardiovascular disease, such as myocardial infarction and stroke, as compared with women with normal menopause. The increased burden may be mediated by a worsening of cardiovascular risk factors, such as lipids, corresponding with the loss of ovarian function. In contrast, the increased burden may be caused by factors that precede and potentially contribute to both CVD events and ovarian decline, such as X-chromosome abnormalities and smoking. Regardless of the cause, women with POI may serve as an important population to target for CVD screening and prevention strategies. These strategies should include the use of CVD risk stratification tools to identify women that may benefit from lifestyle modification and pharmacological therapy to prevent CVD. Sex steroid therapy for the sole purpose of CVD prevention in women with POI cannot be recommended, based on a lack of evidence. PMID:21969267

  18. Serotonin involvement in pituitary-adrenal function

    NASA Technical Reports Server (NTRS)

    Vernikos-Danellis, J.; Kellar, K. J.; Kent, D.; Gonzales, C.; Berger, P. A.; Barchas, J. D.

    1977-01-01

    Experiments clarifying the effects of serotonin (5-HT) in the regulation of the hypothalamic-pituitary-adrenocortical system are surveyed. Lesion experiments which seek to determine functional maps of serotonergic input to areas involved in regulation are reported. Investigations of the effects of 5-HT levels on the plasma ACTH response to stress and the diurnal variation in basal plasma corticosterone are summarized, and the question of whether serotonergic transmission is involved in the regulation of all aspects of pituitary-adrenal function is considered with attention to the stimulatory and inhibitory action of 5-HT.

  19. Spontaneous Massive Adrenal Hemorrhage: A Management Dilemma

    PubMed Central

    Agarwal, Anshuman

    2015-01-01

    Abstract Adrenal hemorrhage (AH) is a rare but life-threatening condition. Small focal hemorrhage may present subclinically, but massive hemorrhage may lead to rapid cardiovascular collapse and ultimately death if not diagnosed appropriately and treated quickly. Most cases reported in the literature have been treated conservatively. In an event of increasing hemorrhage during conservative management, it may be tricky to intervene surgically because of the hematoma around the gland. Here we describe a case where we managed a large spontaneous AH by a combination of angioembolization and laparoscopic adrenalectomy.

  20. Spontaneous Massive Adrenal Hemorrhage: A Management Dilemma

    PubMed Central

    Agarwal, Anshuman

    2015-01-01

    Abstract Adrenal hemorrhage (AH) is a rare but life-threatening condition. Small focal hemorrhage may present subclinically, but massive hemorrhage may lead to rapid cardiovascular collapse and ultimately death if not diagnosed appropriately and treated quickly. Most cases reported in the literature have been treated conservatively. In an event of increasing hemorrhage during conservative management, it may be tricky to intervene surgically because of the hematoma around the gland. Here we describe a case where we managed a large spontaneous AH by a combination of angioembolization and laparoscopic adrenalectomy. PMID:27579389

  1. Vitamin D Insufficiency: Disease or No Disease?

    PubMed Central

    Hansen, Karen E; Jones, Andrea N; Lindstrom, Mary J; Davis, Lisa A; Engelke, Jean A; Shafer, Martin M

    2008-01-01

    Vitamin D insufficiency (VDI) is widely reported. In patients with normal PTH, the diagnosis rests on increases in fractional calcium absorption (FCA) when 25(OH)D increases above 30 ng/ml. However, estimates of increased FCA after correction of VDI vary dramatically, depending on study methods. We used a dual stable calcium isotope to clarify the impact of vitamin D repletion on FCA in postmenopausal women with VDI. We hypothesized that FCA would increase with vitamin D repletion. We studied postmenopausal women with VDI [25(OH)D = 16–24 ng/ml] and an estimated calcium intake ≤1100 mg daily. Exclusion criteria included hypercalcemia, hypercalciuria, renal insufficiency, nephrolithiasis, gastrointestinal disorders, osteomalacia, prior adult fragility fracture, baseline T-score < −3.0, and use of medications known to interfere with vitamin D or calcium metabolism. Each woman underwent inpatient FCA studies before and after correction of VDI. We used ergocalciferol 50,000 IU/d for 15 days to achieve vitamin D repletion. During each study, women consumed their typical diet. They ingested 44Ca orally with breakfast and received 42Ca intravenously. We collected urine for 24 h and measured its calcium isotope content by mass spectrometry. Eighteen women completed the study; all but two had normal PTH. During the first and second FCA studies, their mean 25(OH)D level was 22 ± 4 and 64 ± 21 ng/ml, respectively (p < 0.001). Subjects' average FCA was 24 ± 7% initially and 27 ± 6% after vitamin D repletion (p = 0.04). Thus, FCA increased by 3 ± 1% with correction of VDI. Postmenopausal women with VDI experience small FCA increments with vitamin D therapy. In existing literature, this small change in FCA does not associate with lower fracture rates or consistently higher bone mass. Future studies should ascertain whether small FCA increments favorably affect the skeleton. PMID:18302509

  2. Daytime mechanical ventilation in chronic respiratory insufficiency.

    PubMed

    Schönhofer, B; Geibel, M; Sonneborn, M; Haidl, P; Köhler, D

    1997-12-01

    Chronic respiratory insufficiency (CRI) is associated with nocturnal hypoventilation. Treatment with noninvasive mechanical ventilation (NIMV) performed overnight relieves symptoms of hypoventilation and improves daytime blood gases in CRI. In order to test whether the efficacy of NIMV depends on it being applied during sleep, we conducted a prospective case-controlled study comparing daytime mechanical ventilation (dMV) in awake patients with nocturnal mechanical ventilation (nMV) given in equal quantities. We enrolled 34 clinically stable patients (age 56.1+/-12.1 yrs, 20 females, 14 males) with CRI due to restrictive lung and chest wall disorders and neuromuscular disease. Using a prospective case-control design, matched subjects were allocated alternately to dMV and nMV. After 1 month of NIMV there was considerable symptomatic improvement in both dMV and nMV patients. There were no significant differences between groups in the improvement in daytime arterial carbon dioxide tension (Pa,CO2) (dMV from 7.5+/-0.6 to 5.7+/-0.6 kPa; nMV from 7.2+/-0.5 to 5.8+/-0.5 kPa, p<0.0001) and during the unassisted spontaneous night-time ventilation in terms of transcutaneous Pa,CO2 (dMV from 8.4+/-1.2 to 6.6+/-0.7 kPa; nMV from 8.2+/-1.2 to 6.8+/-0.5 kPa, p<0.0001). We conclude that in many respects, when compared to nocturnal mechanical ventilation, daytime mechanical ventilation in awake patients is equally effective at reversing chronic respiratory insufficiency. Since long-term safety issues were not addressed in this study, we recommend that nocturnal mechanical ventilation should remain the modality of choice for noninvasive mechanical ventilation.

  3. Control and localization of rat adrenal cyclic guanosine 3', 5'-monophosphate. Comparison with adrenal cyclic adenosine 3', 5'-monophosphate.

    PubMed Central

    Whitley, T H; Stowe, N W; Ong, S H; ey, R L; Steiner, A L

    1975-01-01

    Cyclic AMP and cyclic GMP were measured in rat adrenal glands after either hypophysectomy alone or after hypophysectomy and treatment with ACTH. Adrenal cyclic GMP levels rise in acutely hypophysectomized rats to a maximum at 1 h of approximately 200% of control levels; there is a return to base line at 4-12 h after hypophysectomy. In contrast, adrenal cyclic AMP falls immediately to about 50% of control levels after hypophysectomy and remains at approximately 1 pmol per mg tissue. Doses of ACTH beyond the physiological range markedly suppress adrenal cyclic GMP while producing a 50-fold or greater rise in cyclic AMP in hypophysectomized rats. This pattern of adrenal cyclic GMP rise was unchanged in acutely hypophysectomized animals treated with desamethasone. N-6-2'-0 dibutyryl cyclic AMP acted similarly to the effect of ACTH in bringing about a suppression of adrenal cyclic GMP levels. Physiological i.v. pulse doses of ACTH produced a rapid dose related increase in adrenal cyclic GMP. In vitro incubation of quartered adrenal pairs with 500 mU ACTH produced elevated cyclic AMP levels and suppression of cyclic GMP. Whereas adrenal cyclic AMP fell rapidly to 50% of control levels after hypophysectomy and remained at about 1 pmol per mg tissue for 7 days, adrenal cyclic GMP showed a biphasic rhythm in long-term hypophysectomized animals. After an initial peak at 1 h after hypophysectomy, adrenal cyclic GMP declined to baseline at 4-12 h but thereafter progressively rose with time, eventually reaching levels over 1 pmol per mg tissue. Fluorescent immunocytochemical staining of rat adrenal zona fasciculata showed cyclic AMP largely confined to cytoplasmic elements with little fluorescence contained in nuclei. In constant, cyclic GMP was found discretely positioned in nuclei with prominent fluorescence in nucleoli in addition to cytoplasmic localization. It is concluded that in hypophysectomized rats ACTH, either directly or in conjunction with altertion of adrenal

  4. What Are the Treatments for Congenital Adrenal Hyperplasia (CAH)?

    MedlinePlus

    ... for congenital adrenal hyperplasia (CAH)? Skip sharing on social media links Share this: Page Content Treatments for CAH ... pepubs/cah.pdf (PDF - 751 KB) [top] Screening, Technology and Research in Genetics ... Endocrine Society. (2010). Congenital adrenal hyperplasia due to steroid 21- ...

  5. Incidence and Cause of Hypertension During Adrenal Radiofrequency Ablation

    SciTech Connect

    Yamakado, Koichiro Takaki, Haruyuki; Yamada, Tomomi; Yamanaka, Takashi; Uraki, Junji; Kashima, Masataka; Nakatsuka, Atsuhiro; Takeda, Kan

    2012-12-15

    Purpose: To evaluate the incidence and cause of hypertension prospectively during adrenal radiofrequency ablation (RFA). Methods: For this study, approved by our institutional review board, written informed consent was obtained from all patients. Patients who received RFA for adrenal tumors (adrenal ablation) and other abdominal tumors (nonadrenal ablation) were included in this prospective study. Blood pressure was monitored during RFA. Serum adrenal hormone levels including epinephrine, norepinephrine, dopamine, and cortisol levels were measured before and during RFA. The respective incidences of procedural hypertension (systolic blood pressure >200 mmHg) of the two patient groups were compared. Factors correlating with procedural systolic blood pressure were evaluated by regression analysis.ResultsNine patients underwent adrenal RFA and another 9 patients liver (n = 5) and renal (n = 4) RFA. Asymptomatic procedural hypertension that returned to the baseline by injecting calcium blocker was found in 7 (38.9%) of 18 patients. The incidence of procedural hypertension was significantly higher in the adrenal ablation group (66.7%, 6/9) than in the nonadrenal ablation group (11.1%, 1/9, P < 0.0498). Procedural systolic blood pressure was significantly correlated with serum epinephrine (R{sup 2} = 0.68, P < 0.0001) and norepinephrine (R{sup 2} = 0.72, P < 0.0001) levels during RFA. The other adrenal hormones did not show correlation with procedural systolic blood pressure. Conclusion: Hypertension occurs frequently during adrenal RFA because of the release of catecholamine.

  6. Early Hormonal Influences on Cognitive Functioning in Congenital Adrenal Hyperplasia.

    ERIC Educational Resources Information Center

    Resnick, Susan M.; And Others

    1986-01-01

    Reports the results of cognitive test performance and early childhood activities in individuals with congenital adrenal hyperplasia, an autosomal recessive disorder associated with elevated prenatal adrenal androgen levels, demonstrating the effects of early exposure to excess androgenizing hormones on sexually dimorphic cognitive functioning.…

  7. Embryological and molecular development of the adrenal glands.

    PubMed

    Ross, Ian L; Louw, Graham J

    2015-03-01

    In this mini review, the embryological and functional development of the adrenal glands is presented from a molecular perspective. While acknowledging that this is a highly complex series of events, the processes are described in simple and broad strokes in a single text for the reader who is interested in this field but is not an active researcher. The origin of the adrenal glands is in the mesodermal ridge as early as the fourth week of gestation. Between the eighth and ninth weeks of gestation, the adrenal glands are encapsulated and this results in the presence of a distinct organ. There have been great strides in deciphering the very complicated molecular aspects of adrenal gland development in which multiple transcription factors have been identified, directing the adrenogonadal primordium into the adrenal cortex, kidney, or bipotential gonad. Adrenocorticotrophic hormone is critical for early development of the hypothalamic-pituitary adrenal axis. Several mutations in transcription factors, responsible for normal adrenal gland development have been found to induce the familial syndrome of congenital adrenal hypoplasia or neoplasia.

  8. Massive retroperitoneal hemorrhage owing to a ruptured adrenal cyst.

    PubMed

    Pasciak, R M; Cook, W A

    1988-01-01

    We report a rare case of massive retroperitoneal hemorrhage owing to rupture of an adrenal cyst after blunt abdominal trauma. A large retroperitoneal hematoma was evacuated and subtotal adrenalectomy was performed. Convalescence was uneventful. Histology revealed an endothelial-lined adrenal cyst suggesting a vascular or lymphatic etiology.

  9. X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.

    PubMed

    Pereira, Bernardo Dias; Pereira, Iris; Portugal, Jorge Ralha; Gonçalves, João; Raimundo, Luísa

    2015-04-01

    X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn. Family history was relevant for a maternal uncle death at the newborn age. Beyond 2 year-old steroid measurements rendered undetectable and delayed bone age was noticed. Molecular analysis of NR0B1 gene revealed a previously unreported mutation (c.1084A>T), leading to a premature stop codon, p.Lys362*, in exon 1. His mother and sister were asymptomatic carriers. At 14 year-old he had 3 mL of testicular volume and biochemical surveys (LH < 0.1 UI/L, total testosterone < 10 ng/dL) concordant with hypogonadotrophic hypogonadism. Kindred B had two males diagnosed with adrenal insufficiency at the newborn age. By 3 year-old both siblings had undetectable androgen levels and delayed bone age. NR0B1 molecular analysis identified a nonsense mutation in both cases, c.243C>G; p.Tyr81*, in exon 1. Their mother and sister were asymptomatic carriers. At 14 year-old (Tanner stage 1) hypothalamic-pituitary-gonadal axis evaluation in both males (LH < 0.1UI/L, total testosterone < 10 ng/dL) confirmed hypogonadotropic hypogonadism. In conclusion, biochemical profiles, bone age and an X-linked inheritance led to suspicion of NR0B1 mutations. Two nonsense mutations were detected in both kindreds, one previously unreported (c.1084A>T; p.Lys362*). Mutation identification allowed the timely institution of testosterone in patients at puberty and an appropriate genetic counselling for relatives.

  10. X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.

    PubMed

    Pereira, Bernardo Dias; Pereira, Iris; Portugal, Jorge Ralha; Gonçalves, João; Raimundo, Luísa

    2015-04-01

    X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn. Family history was relevant for a maternal uncle death at the newborn age. Beyond 2 year-old steroid measurements rendered undetectable and delayed bone age was noticed. Molecular analysis of NR0B1 gene revealed a previously unreported mutation (c.1084A>T), leading to a premature stop codon, p.Lys362*, in exon 1. His mother and sister were asymptomatic carriers. At 14 year-old he had 3 mL of testicular volume and biochemical surveys (LH < 0.1 UI/L, total testosterone < 10 ng/dL) concordant with hypogonadotrophic hypogonadism. Kindred B had two males diagnosed with adrenal insufficiency at the newborn age. By 3 year-old both siblings had undetectable androgen levels and delayed bone age. NR0B1 molecular analysis identified a nonsense mutation in both cases, c.243C>G; p.Tyr81*, in exon 1. Their mother and sister were asymptomatic carriers. At 14 year-old (Tanner stage 1) hypothalamic-pituitary-gonadal axis evaluation in both males (LH < 0.1UI/L, total testosterone < 10 ng/dL) confirmed hypogonadotropic hypogonadism. In conclusion, biochemical profiles, bone age and an X-linked inheritance led to suspicion of NR0B1 mutations. Two nonsense mutations were detected in both kindreds, one previously unreported (c.1084A>T; p.Lys362*). Mutation identification allowed the timely institution of testosterone in patients at puberty and an appropriate genetic counselling for relatives. PMID:25993682

  11. Current concepts in the management of adrenal incidentalomas

    PubMed Central

    Kanagarajah, Prashanth; Ayyathurai, Rajinikanth; Manoharan, Murugesan; Narayanan, Govindarajan; Kava, Bruce R.

    2012-01-01

    Adrenal tumors are among the commonest incidental findings discovered. The increased incidence of diagnosing adrenal incidentalomas is due to the widespread availability and use of noninvasive imaging studies. Extensive research has been conducted to define a cost-effective diagnostic and therapeutic protocol to guide physicians in managing incidental adrenal lesions. However, there is little consensus on the optimal management strategy. Published literature to date, describes a wide spectrum of treatment options ranging from excision of all adrenal lesions regardless of the size and functional status to extensive hormonal and radiological evaluation to avoid surgery. In this review, we present a comprehensive overview of the presentation, evaluation and management of adrenal incidentalomas. Additionally, we propose a management algorithm to optimally manage these tumors. PMID:23248518

  12. Stereotactic body radiation therapy for metastasis to the adrenal glands.

    PubMed

    Shiue, Kevin; Song, Andrew; Teh, Bin S; Ellis, Rodney J; Yao, Min; Mayr, Nina A; Huang, Zhibin; Sohn, Jason; Machtay, Mitchell; Lo, Simon S

    2012-12-01

    Many primary cancers can metastasize to the adrenal glands. Adrenalectomy via an open or laparoscopic approach is the current definitive treatment, but not all patients are eligible or wish to undergo surgery. There are only limited studies on the use of conventional radiation therapy for palliation of symptoms from adrenal metastasis. However, the advent of stereotactic body radiation therapy (SBRT) - also named stereotactic ablative radiotherapy for primary lung cancer, metastases to the lung, and metastases to the liver - have prompted some investigators to consider the use of SBRT for metastases to the adrenal glands. This review focuses on the emerging data on SBRT of metastasis to the adrenal glands, while also providing a brief discussion of the overall management of adrenal metastasis.

  13. Primary hyperaldosteronism: comparison of CT, adrenal venography, and venous sampling

    SciTech Connect

    Geisinger, M.A.; Zelch, M.G.; Bravo, E.L.; Risius, B.F.; O'Donovan, P.B.; Borkowski, G.P.

    1983-08-01

    Twenty-nine patients with primary hyperaldosteronism were evaluated with computed tomography (CT), adrenal venous sampling, and adrenal venography. Twenty-three patients had aldosteronomas and six had bilateral adrenocortical hyperplasia. Sixteen (70%) of the adenomas were accurately located by CT. All nodules of 1.5 cm or larger diameter and 50% of nodules 1.0 to 1.4 cm in diameter were demonstrated. Nodules of less than 1.0 cm in diameter generally were not detected. High-resolution CT appeared more sensitive than standard CT (75% vs 58%). Adrenal venous sampling for aldosterone assay was the most sensitive of the three methods, localizing 22 (96%) of the 23 adenomas. Eighteen (78%) of the adenomas were identified by adrenal venography, although two patients with bilateral cortical hyperplasia were mistakenly diagnosed as having a small adenoma. No such false-positive studies were encountered with CT or adrenal venous sampling.

  14. Multi-Target Approach to Metastatic Adrenal Cell Carcinoma.

    PubMed

    Wahab, Norasyikin A; Zainudin, Suehazlyn; AbAziz, Aini; Mustafa, Norlaila; Sukor, Norlela; Kamaruddin, Nor Azmi

    2016-09-01

    Adrenal cell carcinoma is a rare tumor and more than 70% of patients present with advanced stages. Adrenal cell carcinoma is an aggressive tumor with a poor prognosis. Surgical intervention is the gold standard treatment and mitotane is the only drug approved for the treatment of adrenal cell carcinoma. Until recently in 2012, the etoposide, doxorubicin, cisplatin plus mitotane are approved as first-line therapy based on response rate and progression-free survival. This case illustrates a case of advanced adrenal cell carcinoma in a young girl who presented with huge adrenal mass with inferior vena cava thrombosis and pulmonary embolism. Multi-approach of therapy was used to control the tumor size and metastasis. Therefore, it may prolong her survival rate for up to 5 years and 4 months. PMID:27631184

  15. Adrenal medullary ganglion neurons project into the splanchnic nerve.

    PubMed

    Dagerlind, A; Pelto-Huikko, M; Diez, M; Hökfelt, T

    1995-12-01

    Retrograde tract-tracing was used to study the projections of adrenal medullary ganglion neurons. The splanchnic nerve was cut close to the suprarenal ganglia and the retrograde tracer FluoroGold was applied at the site of nerve transection. Groups of adrenal medullary ganglion neurons exhibited FlurorGold- or Fast Blue-induced fluorescence restricted to the perikarya. Using immunohistochemistry most retrogradely labelled ganglion neurons showed immunoreactivity for neuropeptide Y. In addition, after splanchnicotomy most ganglion neurons expressed galanin and galanin message-associated peptide immunoreactivities which could not be observed in control adrenals. Taken together, the present results strongly indicate that adrenal medullary ganglion neurons project back into the splanchnic nerve perhaps representing feedback system modulating the preganglionic innervation of the adrenal gland.

  16. Neural control of adrenal medullary and cortical blood flow during hemorrhage

    SciTech Connect

    Breslow, M.J.; Jordan, D.A.; Thellman, S.T.; Traystman, R.J.

    1987-03-01

    Hemorrhagic hypotension produces an increase in adrenal medullary blood flow and a decrease in adrenal cortical blood flow. To determine whether changes in adrenal blood flow during hemorrhage are neurally mediated, the authors compared blood flow responses following adrenal denervation (splanchnic nerve section) with changes in the contralateral, neurally intact adrenal. Carbonized microspheres labeled with /sup 153/Gd, /sup 114/In, /sup 113/Sn, /sup 103/Ru, /sup 95/Nb or /sup 46/Se were used. Blood pressure was reduced and maintained at 60 mmHg for 25 min by hemorrhage into a pressurized bottle system. Adrenal cortical blood flow decreased to 50% of control with hemorrhage in both the intact and denervated adrenal. Adrenal medullary blood flow increased to four times control levels at 15 and 25 min posthemorrhage in the intact adrenal, but was reduced to 50% of control at 3, 5, and 10 min posthemorrhage in the denervated adrenal. In a separate group of dogs, the greater splanchnic nerve on one side was electrically stimulated at 2, 5, or 15 Hz for 40 min. Adrenal medullary blood flow increased 5- to 10-fold in the stimulated adrenal but was unchanged in the contralateral, nonstimulated adrenal. Adrenal cortical blood flow was not affected by nerve stimulation. They conclude that activity of the splanchnic nerve profoundly affects adrenal medullary vessels but not adrenal cortical vessels and mediates the observed increase in adrenal medullary blood flow during hemorrhagic hypotension.

  17. Adrenal Homografts in Mice, with special reference to `Immunological Adrenalectomy'

    PubMed Central

    Medawar, P. B.; Russell, P. S.

    1958-01-01

    Adrenal cortical grafts transplanted between members of an inbred strain of mice (`isografts') are held to be successful when they empower adrenalectomized mice to subsist upon a diet low in NaCl. By this criterion, in which due allowance must be made for the hypertrophy of accessory adrenal tissue, the intramuscular implantation of adrenal cortical shavings, free from medullary tissue, is a reliable method of grafting. The intravascular injection of dissociated cortical cells, though sometimes successful, is not reliable. The testis, the anterior chamber of the eye, and the brain will also serve as sites of transplantation, though less efficiently than muscle. Adrenal cortical grafts transplanted by the intramuscular method between members of different inbred strains of mice (`homografts') are unsuccessful. Homografts may, however, survive in the anterior chamber of the eye. Immunological tolerance may be procured in respect of adrenal cortical tissue: adult A-line mice into which CBA splenic cells have been injected shortly after birth will accept CBA adrenal homografts as readily as they accept isografts. It is accordingly argued that all the `transplantation antigens' possessed by a mouse's adrenal cortical tissue are also possessed by its spleen. Tolerant A-line mice subsisting upon homografts of CBA adrenal cortical tissue will die after adoptive immunization, i.e. after the injection of lymphoid cells taken from normal A-line mice which have been actively immunized against CBA tissues. It is shown that this procedure causes CBA tissue in the tolerant host to be destroyed; death is therefore attributed to an immunological `adrenalectomy'. Adrenal homografts transplanted between mice of unrelated strains behave essentially like skin homografts. No opinion is expressed upon whether or not adrenal homografts might survive their transplantation between mice belonging to strains which, though closely related, stand far enough apart for skin homografts to fail

  18. Ultrasonographic measurements of adrenal glands in cats with hyperthyroidism.

    PubMed

    Combes, Anaïs; Vandermeulen, Eva; Duchateau, Luc; Peremans, Kathelijne; Daminet, Sylvie; Saunders, Jimmy

    2012-01-01

    Feline hyperthyroidism is potentially associated with exaggerated responsiveness of the adrenal gland cortex. The adrenal glands of 23 hyperthyroid cats were examined ultrasonographically and compared to the adrenal glands of 30 control cats. Ten hyperthyroid cats had received antithyroid drugs until 2 weeks before sonography, the other 13 were untreated. There was no difference in adrenal gland shape between healthy and hyperthyroid cats: bean-shaped, well-defined, hypoechoic structures surrounded by a hyperechoic halo in 43/60 (71.6%) healthy cats and 34/46 (73.9%) hyperthyroid cats; more ovoid in 13/60 (21.6%) healthy cats and 9/46 (19.6%) hyperthyroid cats while more elongated in 4/60 (6.7%) healthy cats, 3/46 (6.5%) hyperthyroid cats. Hyperechoic foci were present in 9/23 (39.1%) hyperthyroid cats and 2/30 (6.7%) healthy cats. The adrenal glands were significantly larger in hyperthyroid cats, although there was overlap in size range. The mean difference between hyperthyroid cats and healthy cats was 1.6 and 1.7 mm in left and right adrenal gland length, 0.8 and 0.9 mm in left and right cranial adrenal gland height, and 0.4 and 0.9 mm in left and right caudal adrenal gland height. There was no significant difference between the adrenal gland measurements in treated and untreated hyperthyroid cats. The adrenomegaly was most likely associated with the hypersecretion of the adrenal cortex documented in hyperthyroid cats. Hyperthyroidism should be an alternative to hyperadrenocorticism, hyperaldosteronism, and acromegaly in cats with bilateral moderate adrenomegaly.

  19. Laparoscopic and robotic adrenal surgery: transperitoneal approach

    PubMed Central

    Okoh, Alexis K.

    2015-01-01

    Recent advances in technology and the need to decrease surgical morbidity have led a rapid progress in laparoscopic adrenalectomy (LA) over the past decade. Robotics is attractive to the surgeon owing to the 3-dimensional image quality, articulating instruments, and stable surgical platform. The safety and efficacy of robotic adrenalectomy (RA) have been demonstrated by several reports. In addition, RA has been shown to provide similar outcomes compared to LA. Development of adrenal surgery has involved the description of several surgical approaches including the anterior transperitoneal, lateral transperitoneal (LT) and posterior retroperitoneal (PR). Among these, the most frequently preferred technique is LT adrenalectomy, primarily due to the surgeon’s familiarity of the operative field, wider working space and visibility. The LT technique is suitable for the resection of larger, unilateral tumors and in scenarios where conversion to an open transperitoneal approach is warranted, it offers a lesser burden. Also, the larger view of the entire abdominal cavity and excellent exposure of both adrenal glands and surrounding structures provided by the LT technique render it safe and feasible in pediatric and pregnant individuals. PMID:26425457

  20. Non-surgical interventions for convergence insufficiency

    PubMed Central

    Scheiman, Mitchell; Gwiazda, Jane; Li, Tianjing

    2014-01-01

    Background Convergence insufficiency is a common eye muscle co-ordination problem in which the eyes have a strong tendency to drift outward (exophoria) when reading or doing close work. Symptoms may include eye strain, headaches, double vision, print moving on the page, frequent loss of place when reading, inability to concentrate, and short attention span. Objectives To systematically assess and synthesize evidence from randomized controlled trials (RCTs) on the effectiveness of non-surgical interventions for convergence insufficiency. Search strategy We searched The Cochrane Library, MEDLINE, EMBASE, Science Citation Index, the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com) and ClinicalTrials.gov (www.clinicaltrials.gov) on 7 October 2010. We manually searched reference lists and optometric journals. Selection criteria We included RCTs examining any form of non-surgical intervention against placebo, no treatment, sham treatment, or each other. Data collection and analysis Two authors independently assessed eligibility, risk of bias, and extracted data. We performed meta-analyses when appropriate. Main results We included six trials (three in children, three in adults) with a total of 475 participants. We graded four trials at low risk of bias. Evidence from one trial (graded at low risk of bias) suggests that base-in prism reading glasses was no more effective than placebo reading glasses in improving clinical signs or symptoms in children. Evidence from one trial (graded at high risk of bias) suggests that base-in prism glasses using a progressive addition lens design was more effective than progressive addition lens alone in decreasing symptoms in adults. At three weeks of therapy, the mean difference in Convergence Insufficiency Symptoms Survey (CISS) score was −10.24 points (95% confidence interval (CI) −15.45 to −5.03). Evidence from two trials (graded at low risk of bias) suggests that outpatient (or office-based as used in the