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Αλέξανδρος Γ. Σφακιανάκης

Monday, April 8, 2019

Left ventricular (LV) dyssynchrony in patients with ST elevation myocardial infarction (STEMI)

Left ventricular dyssynchrony assessment using tissue synchronization imaging in acute myocardial infarction
Ahmed S Azazy, Mahmoud Soliman, Rehab Yaseen, Morad Mena, Haitham Sakr

Avicenna Journal of Medicine 2019 9(2):48-54

Objectives: To assess left ventricular (LV) dyssynchrony in patients with ST elevation myocardial infarction (STEMI). Background: Mechanical synchronization disorder leads to a decrease in LV ejection fraction (LVEF) and stroke volume, an abnormal distribution of wall tension, and increase in workload during cardiac contraction. Methods: We enrolled 56 participants, 36 with acute STEMI and 20 healthy controls. The automatically color-coded time to peak myocardial velocity was measured using a 6mm sample volume, manually positioned within the two-dimensional-tissue strain image of the 12 basal and middle LV segments. Results: A significant delay was found between the septal-lateral and septal-posterior walls in patients with STEMI compared to patients in the control group (36.36 vs. −6.0ms, P = 0.036; and 42.7 vs. 23.94ms, P = 0.042, respectively). Furthermore, all segment maximum differences and all segment standard deviation (SD; dyssynchrony index) were found to be significantly higher in the STEMI group (131.28 vs. 95.45ms, P = 0.013; and 44.47 vs. 26.45ms, P = 0.001, respectively). A significant delay between the septal-lateral walls and septal-posterior walls, all segment maximum difference, and all segment SD (dyssynchrony index) were found in patients with complicated STEMI (70.89 vs. 15.83ms, P = 0.038; 57.44 vs. 19.06ms, P = 0.040; 138.11 vs. 100.0ms, P = 0.035; and 45.44 vs. 32.50ms, P = 0.021, respectively). There was a significant negative correlation between tissue synchronization imaging parameters and LVEF, and a positive correlation with LV end systolic dimension. Conclusion: Patients with acute STEMI showed significant LV dyssynchrony, which was an independent predictor of inhospital complications.

Multiple hormonal deficiencies suggestive of pseudo-pseudohypararthyroidism

CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 3  |  Page : 141-144

Pseudopseudohypoparathyroidism: an unusual case


Department of Diabetes and Endocrinology, Fortis Hospital, Bengaluru, Karnataka, India

Date of Web Publication8-Apr-2019

    

Correspondence Address:
Srinivasa P Munigoti
Department of Diabetes and Endocrinology, Fortis Hospital, 154, 9, Bannerghatta Road, Opposite IIM-B, Bengaluru - 560 076, Karnataka 
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JCSR.JCSR_43_18

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  Abstract 


We report unusual case of a 22-year-old male patient who presented with phenotypic features of Albright's hereditary osteodystrophy, but had associated multiple hormonal deficiencies suggestive of pseudo-pseudohypararthyroidism.

Keywords: Albright's hereditary dystrophy, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism


How to cite this article:
Munigoti SP. Pseudopseudohypoparathyroidism: an unusual case. J Clin Sci Res 2018;7:141-4

How to cite this URL:
Munigoti SP. Pseudopseudohypoparathyroidism: an unusual case. J Clin Sci Res [serial online] 2018 [cited 2019 Apr 9];7:141-4. Available from: http://www.jcsr.co.in/text.asp?2018/7/3/141/255667




  Introduction Top


Albright's hereditary osteodystrophy (AHO) is characterised by short stature, varying degree of mental retardation, obesity with round facies, brachydactyly (i.e., shortening of the metacarpal bones, particularly the third, fourth and fifth) and dental hypoplasia.[1]Pseudohypoparathyroidism (PHP) is a term used to describe the condition involving parathyroid hormone (PTH) resistance and is subclassified into 1a, 1b, 1c and Type 2.

Although connected by a common gene defect, AHO and PHP are not interchangeable. These two conditions are heterogeneous manifestations of a defect caused by gene mutation in the GNAS gene, which may lead to the partial or total deficiency of Gsα activity. Impaired Gsα activity, in turn, causes disruption of the biochemical pathways responsible for the activation of various peptide hormone receptors.[2] The GNAS gene itself is subject to 'genomic imprinting', a phenomenon that leads to gene expression in a parent-of-origin-specific manner.[3]


  Case Report Top


A 22-year-old male patient from Bangladesh presented with 'abnormal growth of fingers and toes' since childhood. He reported similar abnormalities in paternal great-grandmother. The patient was the only child to his parents. Accompanying him to the clinic, his father reports delayed intellectual and emotional maturity of his son compared to his peers (delayed academic progress - 11th grade at the age of 22).

On examination, his height was 1.55 m and his weight was 55.5 kg. Examination of the external genitalia revealed bilaterally descended testes of about 8–10 mL in volume. His genitalia otherwise was fully virilised with normal male pattern pubic hair distribution. He had scant chest and axillary hair with no facial hair. Neurological examination was completely normal. Archibald's sign (dimpled knuckles) and shortened toes typical of Albright's phenotypic features were prominent [Figure 1] and [Figure 2]. Laboratory investigations are listed in [Table 1][Figure 3] and [Figure 4]. Computed tomography of the brain did not reveal any sellar abnormalities. He was diagnosed to have phenotypic features of AHO and pseudo-PHP (PPHP).
Figure 1: Clinical photograph showing shortening of third, fourth and fifth digits in the hand

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Figure 2: X-ray of both hands (antero-posterior view) showing shortening of third, fourth and fifth metacarpal

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Table 1: Laboratory Investigations

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Figure 3: Clinical photograph showing shortening of third, fourth and fifth digits in the feet

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Figure 4: X-ray of both feet (antero-posterior view) showing shortened third, fourth and fifth metatarsal

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  Discussion Top


Patients with AHO having GNAS mutations on maternally inherited alleles exhibit resistance to multiple hormones that use the alpha-subunit of the stimulatory G protein to enhance cyclic adenosine monophosphate (cAMP) production. Resistance to PTH manifests as hypocalcaemia and hyperphosphataemia in the presence of elevated serum PTH. In addition to PTH, resistance to many other hormones such as thyroid-stimulating hormone (TSH), gonadotrophins, adrenocorticotrophic hormone (ACTH), growth-hormone-releasing hormone and vasopressin are also well-recognised. This group of patients with resistance to actions of multiple hormones are classified to have PHP1a.[4],[5] On the other hand, patients with AHO having GNAS mutations on paternally-inherited alleles have the phenotypic features of AHO but manifest no resistance to hormones and are labelled as having 'PPHP'.[2]

The patient in our case exhibited clinical and radiological features of AHO with normal calcium, phosphorus and PTH result. Many patients with PHP 1a are well-recognised to present with overt or subclinical hypothyroidism in infancy, as a result of resistance to TSH action. The patient had mild biochemical hypothyroidism as evidenced by a small rise in TSH value and this is presumed to be due to primary hypothyroidism (subclinical) in the absence of proof of antibodies. Resistance to TSH is generally mild, with TSH levels that are only minimally elevated and thyroid hormone levels that are normal or slightly low as in our case.[6] Partial TSH resistance in keeping with the GNAS mutation also remains a possibility with this patient given the clinical heterogeneity of this syndrome.[7]

Resistance to the actions of the gonadotropins with PHP 1a presenting with menstrual irregularities in women is well-recognised. This is thought to be due to a partial resistance of the theca and granulosa cells of the ovary to gonadotropins due to deficient Gsα activity. Hormonal evaluation in such women shows elevated gonadotropin levels with subnormal oestrogen.[8] Patients with PHP-Ia (especially women), present with clinical evidence of hypogonadism. However, studies have not been able to consistently establish that they have increased basal or gonadotrophin hormone-releasing hormone stimulated levels of circulating gonadotropins. This is likely to be the cause of absence of gonadotropins elevation despite the low testicular volume in our patient. Unlike in women, such clinical and biochemical features with partial resistance are less well-identified and described in men. Nevertheless, patient in our case had hypogonadotropic hypogonadal biochemistry with bilaterally descended testes with post-pubertal volume (8–10 mL) and fully virilised genitalia that is classically not expected in patients with PHP1a. Given normal 17-OH-progesterone levels 30 min post-ACTH stimulus, late-onset congenital adrenal hyperplasia as a possibility to explain his virilisation is unlikely.

In most patients with PHP1a, responses to corticotrophin and vasopressin are clinically unaffected.[9] Interestingly, our patient has hypocortisolaemia as demonstrated by the subnormal response to exogenous ACTH. Only one such case in association with GNAS mutation has been reported in the published literature in the past.[10] It is worth mentioning that ACTH acts through melanocortin-2 receptor whose second messenger is cAMP and the receptor acts through GSα. Thus, primary adrenal failure of unknown aetiology seems unlikely in our case.

Overall, although our patient's phenotypic features resemble that of AHO, associated hormonal tests are not in keeping with classic presentation of PHP1a and hence PPHP is the primary diagnosis by exclusion. Nevertheless, clinical heterogeneity with variable expression of phenotypes, presenting with overlap between different subtypes, even amongst patients with the same GNAS mutation, is acknowledged to be a challenge in subtyping and classification of patients with this disease.[11] Although genetic diagnosis could not be established in our patient, this well-recognised heterogeneity of GNAS mutations provides an opportunity for further study in patients like ours whose phenotypic presentation does not fit into well-defined subtypes of PHP. Further, hormone resistance in other axes may be present even when there is no PTH resistance in PPHP as illustrated in our case.

Acknowledgements

We would like to acknowledge the Departments of Biochemistry and Radiology for their kind help in providing reports of the investigations mentioned in the case report and Dr C. V. Harinarayan, Director, Department of Endocrinology and Metabolic Bone Disease, Sakra World Hospital, Bengaluru, for input and discussions in this case.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Thakker RV. Hypocalcaemic disorders, hypoparathyroidism, and pseudohypoparathyroidism. In: Wass JA, Stewart PM, Amiel SA, Davies MJ, editors. Oxford Textbook of Endocrinology and Diabetes. 2nd ed. Oxford: Oxford University Press; 2011. p. 675-86.  Back to cited text no. 1
    
2.
Lietman SA, Goldfarb J, Desai N, Levine MA. Preimplantation genetic diagnosis for severe Albright hereditary osteodystrophy. J Clin Endocrinol Metab 2008;93:901-4.  Back to cited text no. 2
    
3.
Peters J. The role of genomic imprinting in biology and disease: An expanding view. Nat Rev Genet 2014;15:517-30.  Back to cited text no. 3
    
4.
Brickman AS, Carlson HE, Levin SR. Responses to glucagon infusion in pseudohypoparathyroidism. J Clin Endocrinol Metab 1986;63:1354-60.  Back to cited text no. 4
    
5.
Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M. Minireview: GNAS: Normal and abnormal functions. Endocrinology 2004;145:5459-64.  Back to cited text no. 5
    
6.
Mantovani G. Clinical review: Pseudohypoparathyroidism: Diagnosis and treatment. J Clin Endocrinol Metab 2011;96:3020-30.  Back to cited text no. 6
    
7.
Pohlenz J, Ahrens W, Hiort O. A new heterozygous mutation (L338N) in the human gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. Eur J Endocrinol 2003;148:463-8.  Back to cited text no. 7
    
8.
Namnoum AB, Merriam GR, Moses AM, Levine MA. Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1998;83:824-9.  Back to cited text no. 8
    
9.
Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, et al. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: New evidence for imprinting of the gs alpha gene. J Clin Endocrinol Metab 2003;88:4070-4.  Back to cited text no. 9
    
10.
Chaubey SK, Sangla KS. A sporadic case of pseudohypoparathyroidism type 1 and idiopathic primary adrenal insufficiency associated with a novel mutation in the GNAS1 gene. Endocr Pract 2014;20:e202-6.  Back to cited text no. 10
    
11.
Lemos MC, Thakker RV. GNAS mutations in pseudohypoparathyroidism type 1a and related disorders. Hum Mutat 2015;36:11-9.  Back to cited text no. 11
    


    Figures

  [Figure 1][Figure 2][Figure 3][Figure 4]
 

Sphenoid wing meningioma and adenocarcinoma of the caecum

CORRESPONDENCE
Year : 2018  |  Volume : 7  |  Issue : 3  |  Page : 151

An unusual case of sphenoid wing meningioma and adenocarcinoma of the caecum


Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad, Iraq

Date of Web Publication8-Apr-2019

    

Correspondence Address:
Mahmood Dhahir Al-Mendalawi
Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad 
Iraq
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JCSR.JCSR_6_19

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How to cite this article:
Al-Mendalawi MD. An unusual case of sphenoid wing meningioma and adenocarcinoma of the caecum. J Clin Sci Res 2018;7:151

How to cite this URL:
Al-Mendalawi MD. An unusual case of sphenoid wing meningioma and adenocarcinoma of the caecum. J Clin Sci Res [serial online] 2018 [cited 2019 Apr 9];7:151. Available from: http://www.jcsr.co.in/text.asp?2018/7/3/151/255673



In their interesting case report, Goudihalliet al.[1] described a 76-year-old male patient diagnosed with left lateral sphenoid wing meningioma who underwent total excision of the tumour. Postoperatively, the patient developed intestinal obstruction due to perforation of colonic growth proved to be adenocarcinoma. In the view of the rarity of development of sequential tumours in a particular patient, I presume that the authors ought to consider defective immune status in the studied patient. Among defective immune states, infection with human immunodeficiency virus (HIV) is the leading cause. My presumption is based on the following point. It is obvious that immunocompromised individuals are more susceptible to various types of tumours compared to healthy controls. The increased susceptibility has been attributed to different factors, namely impaired immunity, co-infection with oncogenic viruses and life extension due to the use of antiretroviral treatment.[2] The available data pointed out to HIV seroprevalence of 0.26% compared with a global average in India is 0.2%.[3] Hence, arranging for HIV testing, CD4+ T-lymphocyte count and viral load estimation was expected. If these tests were to disclose HIV reactivity, the case in question could be truly considered a novel case report in India. This is because sequential tumours in HIV-positive patient has been rarely reported in the literature.[4] Regrettably, the patient succumbed to septic shock before considering HIV testing.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Goudihalli SR, Pathak A, Brar R, Kapoor R, Malhotra M. An unusual case of sphenoid wing meningioma and adenocarcinoma of the caecum. J Clin Sci Res 2017;6:249-52.  Back to cited text no. 1
  [Full text]  
2.
Valencia Ortega ME. Malignancies and infection due to the human immunodeficiency virus. Are these emerging diseases? Rev Clin Esp 2018;218:149-55.  Back to cited text no. 2
    
3.
Paranjape RS, Challacombe SJ. HIV/AIDS in India: An overview of the Indian epidemic. Oral Dis 2016;22 Suppl 1:10-4.  Back to cited text no. 3
    
4.
Skopelitis E, Panayiotakopoulos GD, Kontos AN, Androulaki A, Hatzianastassiou D, Hatzimanolis E, et al. Sequential development of triple malignancy in an HIV-positive patient. J Chemother 2003;15:97-8.  Back to cited text no. 4

Organised blood clot

SPECIAL FEATURE
Year : 2018  |  Volume : 7  |  Issue : 3  |  Page : 149-150

Pulmonary atelectasis due to organised blood clot


1 Department of Medicine, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India
2 Department of Radiodiagnosis, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India

Date of Web Publication8-Apr-2019

    

Correspondence Address:
J Harikrishna
Associate Professor, Department of Medicine, Sri Venkateswara Institute of Medical Sciences, Tirupati - 517 507, Andhra Pradesh 
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JCSR.JCSR_2_19

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How to cite this article:
Harikrishna J, Pradeep V, Mounika G, Lavanya S, Hemsai K, Kumar C S, Devi B V. Pulmonary atelectasis due to organised blood clot. J Clin Sci Res 2018;7:149-50

How to cite this URL:
Harikrishna J, Pradeep V, Mounika G, Lavanya S, Hemsai K, Kumar C S, Devi B V. Pulmonary atelectasis due to organised blood clot. J Clin Sci Res [serial online] 2018 [cited 2019 Apr 9];7:149-50. Available from: http://www.jcsr.co.in/text.asp?2018/7/3/149/255664




  Case Summary Top


A 79-year-old female patient presented to the emergency department at our tertiary care teaching hospital with a history of shortness of breath and fever for 3 days. In view of respiratory distress, she was intubated and was started on mechanical ventilator support. On further evaluation, she was found to have community-acquired pneumonia due to influenza A virus infection, and she was shifted to the medical intensive care unit for further management. She developed sepsis with multiorgan dysfunction; she was managed accordingly with antibiotics and other supportive measures. Tracheostomy was done on day 9; 3 days following that, she became tachypneic, and on clinical examination, breath sounds were diminished all over the lung fields on the left side. Chest X-ray was done and it revealed left lung absorption atelectasis [Figure 1]. An organized blood clot was removed on repeated suctioning with mucolytic agents and following that recruitment maneuvers resulted in expansion of collapsed lung [Figure 2]. She was weaned off from the ventilator support, and after decannulation of the tracheostomy tube, she was discharged in hemodynamically stable condition. On follow-up, she was doing well.
Figure 1: Chest radiograph in anteroposterior view of the patient showing diffuse opacification of the left hemithorax

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Figure 2: Chest radiograph in anteroposterior view of the same patient showing expansion of the left lung following the removal of a blood clot

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  Discussion Top


Although bronchial intubation of the right side most often leads to acute left lung collapse, the possibility of other causes such as obstruction of left bronchus due to mucus plug, blood clot, foreign body aspiration, and large pleural effusion[1] should be considered. Management includes chest physiotherapy, repeated manual lung inflation with frequent suctioning, and postural change with mechanical ventilator support to maintain adequate ventilation. Fiberoptic bronchoscopy remains the method of choice for both diagnosis and treatment of lung collapse due to obstruction if above measures fail.[2] The present case highlights the importance of meticulous clinical examination, and timely management of acute lung collapse results in decreased morbidity and better outcome in patients with absorption atelectasis.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Marchiori E, Hochhegger B, Zanetti G. Opaque hemithorax. J Bras Pneumol 2017;43:161.  Back to cited text no. 1
    
2.
Kreider ME, Lipson DA. Bronchoscopy for atelectasis in the ICU: A case report and review of the literature. Chest 2003;124:344-50.  Back to cited text no. 2
    


    Figures

  [Figure 1][Figure 2]